 Sonography of renal cystic disease. Now, renal cystic disease is diagnosed earlier and earlier because of more accessible routine renal ultrasound and also due to advances in ultrasound technology. The renal cystic disease relate to the imaging findings of a particular disease. The description has improved over the years and the appearance in newborns may be different from those adolescents and predicting prognosis or deciding on optimal follow-up intervals can be challenging starting with the diagnosis. So, this lecture takes into account these two recent articles or consensus statements or guidelines published recently. Now, renal cystic disease can be life limiting or involve grave prognosis or can result in chronic kidney disease because the certain diseases results in grave prognosis for many. And if such diseases are seen in the antinatal period, the couples decide to terminate. That is one factor, but there are recent advances in the postnatal management of renal cystic disease and also improvement in transplantation. Resulting in improved survival. As a result, the requirement for guidelines and consensus statement has become necessary and that is why these articles have come. One of the recent advancement in renal cystic disease is this awareness about celiopathy. Now, celiopathy is a genetic disease group involving the primary non-motile celia in the cells which line the ducts of the kidney and liver and it forms integral to proper renal and hepatic development. So, this celiopathy is due to defects of primary celia, affect wide variety of tissues and organ systems and it has got genetic and phenotypic heterogeneity which makes things complex and as a result it causes very wide range of overlapping syndromes. Basically, it involves fibrocystic disease of the kidney and liver with or without abnormalities of other organ systems. Now, celiopathy can manifest as mainly visceral celiopathies. Central nervous celiopathy is for example, Joubert syndrome and related disorders. Skeletal celiopathy is an example of short rip poly ductile syndrome as fixating thoracic dystrophy in Lisvankrivel syndrome and also celiopathy syndromes example being over outfacing digital syndrome. Now, coming to renal celiopathy is characterized by presence of renal cysts due to uncontrolled epithelial cell proliferation growth and polarity. There is also downstream of dysregulated celiary dependent signaling which results in kidney failure requiring dialysis and transplantation over time. So, the incidence of renal celiopathy is 1 in 2000 and the diseases of renal celiopathy are Hortisomal recessive polystic kidney disease, Hortisomal diamond polystic kidney disease, nephronophysis and also syndromes like bordered-biddle syndrome, Meckle groubert syndrome and Joubert syndrome. The renal celiopathy involves cysts or parankinomalermal type of the kidney with various associated anomalies of other organ systems as shown in this schematic diagram. We will see in detail. The role of sonography in renal cystic disease is in the differential diagnosis looking for associated anomalies and arriving at a most probable diagnosis based on that do a genetic testing and come to a diagnosis and prognosticate depending upon the various findings and based on the prognosis counsel the patient and the family and of course follow up of the disease where it is necessary. The protocol for renal cystic disease is ultrasound is the first investigation of choice and CT-MRA is not recommended for routine assessment of kidney cysts. Many cystic kidney diseases manifest initially as ecogenic kidneys without visibility. The disease can develop later. So as a result the cystic disease and ecogenic kidneys are considered together more often in the prenatal sonography but also in the postnatal life. So renal cystic disease can manifest as ecogenic kidneys or cystic kidneys or ecogenic kidneys with cysts or rarely it can be initially of normal morphology may develop abnormalities over time. So the protocol involves scanning the kidneys, measuring the size of the kidneys whether small, normal or increased and then ecogeneity of the parenchyma which can be assessed subjectively or comparing with liver and spleen and looking for cortico medullary differentiation and looking for cysts. The cyst can be a solitary renal cyst or it can be multiple unilateral cysts or bilateral cysts and or ecogenic kidneys and then look for associated anomalies in clinically look at the hands and feet, thorax, spine, posterior fossa by other imaging and then liver, pancreas, genitalia by ultrasound and also go into the family history and ultrasound of the kidneys and other organs and ultrasound of the parents and grandparents for looking at the kidneys and liver and also genetic studies which make it complete. Sonography of renal cystic disease is for diagnosis, for prognosis and rational management of the condition. Now renal cystic disease can be focal or it can be multifocal. When it is multifocal, it can be occurred or irritable or it can be infectious cause. So in renal cystic disease, first the clinical background has to be looked for. One is the age of the patient, family history of similar disease, symptoms of presentation, physical findings and renal functional status. These are to be assessed and when doing ultrasound if macroscopic cysts are present the number of cysts have to be described whether it is 1 or 2 to 5 or 6 to 10 or more than 10 and laterality whether it is unilateral or bilateral and location of the cysts whether it is cortical medullary or cortical medullary junction or everywhere and size of the cysts we have to give the maximum diameter of the largest cysts and we also ultrasound the abnormal features of the cysts have to be looked for like septations, internal echoes, calcification, thickened wall and also on color Doppler flow in the septations or in the cyst wall and the protocol also includes ultrasound examination of the liver for cysts, signs of fibrosis, signs of port lipotension and biliary dilatation or cystic transformation of the intrapartic bile ducts called the Caroli syndrome and also in the females internal genitalia have to be looked for and one important technical point is the e-frequency probes have to be used for better delineation as shown in this example there are bilateral enlarged kidneys using the conventional convex probe and using a high-frequency convex probe 5 to 9 it is better shown but the kidneys enlarged and you see some cysts but when you use linear 5 to 12 megahertz you see that the enlargement of the kidney is due to market enlargement of the renal pyramids so once this is seen then it is very diagnostic and we know the condition as autosomal recessive polystick kidney so high-frequency probes have to be used for better diagnosis now coming to the various conditions first is a simple cyst these are some examples of a simple cyst the characteristics are kidney with otherwise normal parenchyma so you see a cyst in an otherwise normal kidney and the other kidney, contralateral kidney is normal and the cyst is seen as a round thin and smooth vault echo-poor or an echoic lesion and it is not septated there are no septa and because it is a cyst containing fluid there is acoustic enhancement which confirms that it is cyst and this should not be connected to the collecting system and on color Doppler there should not be any flow related to the cyst so renal cysts should be critically examined to confirm simpleness you have to rule out all the other features so it is a simpleness is a diagnosis of exclusion no further evaluation is needed if a renal cyst is simple if you conclude that it is a simple cyst no further evaluation is necessary now simple cyst location can be in the center of the parenchyma it can be cortical or it can be in the medulla as seen here or it can be in one of the poles which is more common and or it can be very rarely exophytic it is bulging out of the surface of the kidney the simple cyst can be multiple as seen here the characteristics are maintained but they are multiple in number the simple cyst occurrence varies with age it is very rare in children than in adults now these are two cases of children with small cysts it is less than 0.5% in children more than 10% in adults aged 50 years or older and more than 30% in adults over than 70 years this shows that the simple cysts incidence increases with age particularly after 50 years now differential diagnosis for a simple cyst is it may be a first manifestation of other cystic diseases like polycystic kidney this is particularly shown in a child or it can be chelicell divertically hydrocalix, pseudoaneurysm, cystic dysplasia and hydrated cysts so here this is an example of a cyst but you see immediately a calculus at the neck so this is due to hydrocalix due to a calculus impacted in the infundimulum so this shows that it is not a cyst it is a focal cheliectasis now if this calculus is not seen still it can be a chelicell diverticulum which cannot be differentiated from cysts by ultrasound on IVP it will be differentiated because chelicell diverticulum will fill up with contrast because it communicates with the calyx whereas a cyst does not communicate now another differential diagnosis is pseudoaneurysm now here you see a cyst in the lower pole and put on color Doppler you see that there is flow inside circular flow inside indicating that it is a pseudoaneurysm so whenever you see a cyst anywhere in the body you have to rule out vascular lesion by putting on color Doppler box so that is a pseudoaneurysm so when you see a child with a cyst in the first time diagnosis it is a diagnosis of exclusion and detailed medical and family history has to be taken to rule out that it is initial part of a larger disease like polystic kidney so for that detailed medical and family history has to be taken thorough clinical examination and at least one follow-up assessment has to be done after the diagnosis and does not need contrast enhanced ultrasound MRI or CT imaging for diagnosis then we come to cyst in adults so cyst in adults there is a Bosnoy classification of renal cysts based on CT scan which is not applicable on ultrasound in ultrasound you look for whether it is simple or a complex cyst or characteristics of complex cyst there may be septations, internal echos solid component, mural nodularity or thickened walls so when you see this CT scan may be needed to assess likelihood of rule out malignancy so this is a complex cyst because of internal echos and fluid debris level here you see internal echos in the cyst it may be due to haemorrhage, infection or tumor now this is an example of cyst with fluid fluid level again it may be due to haemorrhage, infection or tumor another example of a complex cyst where you see a cyst and you see a soft tissue a mass within the cyst it can be a fresh clot so you have to rule out a fresh clot by changing, looking for mobility of the clot by changing the position of the patient here you see in supine the location of the mass and when you put the patient in right lateral decupitas you see that the mass has moved to the right side indicating that it is mobile so it becomes a fresh clot and also you can use color Doppler there will not be any flow in the clot whereas there may be flow in a soft tissue mass then another feature of complex cyst septations they are usually flimsy septa now thin versus thick septum the cutoff is one millimeter and there is no flow in the septa so that is the characteristic now you have to differentiate between septated versus two cis adjacent sometimes it cannot be differentiated now septations there may be focal septal thickening of more than one millimeter and then you call it septal thickening and there may be calcification in the septum now calcification in the cyst it can be fine and linear or thick and amorphous or it can be milk of calcium milk of calcium indicates that it is a benign cyst now calcification as seen here is fine and linear in the wall or in the septum so fine focal calcification without any solid component or thick septa is of no significance it may not be evaluated further or it may not be followed up whereas amorphous thick amorphous calcification as seen here in the septum may need excision and biopsy to rule out malignancy now milk of calcium can occur in a cyst and the characteristic of milk of calcium is the fluid level and with the shift of the position the fluid level also will change then we come to the wall characteristics the simple cyst it will be imperceptible whereas in a complex cyst nodularity as seen here in a complex cyst or there may be a frank solid nodule as seen here the renal cyst can also rupture or leak outside as seen here you see the cyst and patients usually present as acute flank pain and here you see fluid in the perinephric space adjacent to the cyst and the kidney will be fixed so these are features of a leaking cyst again a cyst can become infected features of an infected cyst are thick walls as seen here and internal echos internal echos are debris and because of inflammation echogenic inflamed perinephric fat as shown here and because it is infection the kidney becomes fixed and also there will be probe tenderness may be there and of course clinical features of fever and sickness may be present so that is an infected cyst now another differential diagnosis for cyst is hydrated cyst hydrated cyst in the kidney as seen here in the pupil may be unilocular cystic mass when it is difficult to differentiate from a simple cyst but usually it is multilocular because of multiple daughter cysts within the cyst as seen here which gives a typical or characteristic appearance of a hydrated cyst with the death of the parasite the cyst wall gets calcified then we come to complex cysts can be due to a tumor here you see thick septic and when color Doppler there is flow in the septic indicating that it is tumor it is not a cyst now here again you see thick walls and thick septum and internal echos and solid area in the cyst so these are all features of tumor again on color Doppler septum or in the solid area now here again same thick walls thick septum internal echos solid area and flow on color Doppler now necrotic tumor can also present as a cyst but the features will be irregular walls as seen here and when color Doppler there will be increased flow in the thickened walls suggesting that it is a necrotic tumor and rare appearance of tumor is mimicking a cyst with internal echos as seen here you see the acoustic enhancement showing that it is a cyst but it is filled with echos of soft tissue mass appearance so it can be a clot or it can be a tumor but there is acoustic enhancement indicating that it is a cyst or necrosis and then when you put on color mass indicating that it is a tumor within the cyst mimicking a clot the cyst can be parapelvic in location as seen here it is a smaller cyst here in the central echogenic area and the largest cyst in the central echogenic area this can mimic hydranophrosis but there is no communication with the chelesis and it is eccentric in location as seen here this is the parankema on this side parankema is not seen showing that it is racing from this part of the parankema and you will see the renal pelvis separately from the cyst these are diagnostic features for a parapelvic cyst our next condition of renal cystic disease is medullary sponge kidney which has dilated ectatic collecting tubules in the enlarged renal pyramids and it is generally bilateral with a normal renal function and 12% of patients may show calculate in the renal pyramids called the medullary nephrocalsinosis usually it is seen in third and fourth decades now this is typical appearance of medullary sponge kidney enlarged echogenic medullary pyramids and you may see medullary calcific fork pay of varying size these are tiny or they may be larger in size also and there may be frank calculate along this features calculate in the collecting system normal renal size and contour and the differential diagnosis for this appearance is medullary sponge kidney renal tubular acidosis and art recessive polycystic kidney disease now renal tubular acidosis is a condition where kidney's ability to excrete enough acid or retain enough bicarbonate but the renal function will be normal this results in a clinical syndrome characterized by metabolic acidosis so on ultrasound we get enlarged echogenic pyramids there may be also medullary nephrocalsinosis present or absent it may be of art somal dominant or recessive types to bilateral renal cis or echogenic kidney so it can be bilateral cis or echogenic kidneys or both so this may have a typical pattern or atypical non-specific pattern now in typical pattern the size has to be looked for the parenchyma and the cis so based on these features this leads to a specific diagnosis of a condition and second is a non-specific pattern where there are no diagnostic or significant salient features so only differential diagnosis can be entertained and it will need supplementary investigations particularly genetic investigation to arrive at a diagnosis now typical pattern of bilateral cystic kidneys can be isolated, confined to kidneys or it can form part of polymorphomative syndromes and may need genetic diagnosis in most of the situations now typical pattern of isolated type the conditions are bilateral, multi-cystic kidney autosomal recessive polycystic kidney disease and art somal dominant polycystic kidney disease nephronopysis a multi-cystic dysplastic kidney a non hereditary developmental anomaly the kidney is non-functioning so if it is bilateral multi-cystic kidney disease it is lethal so it is not seen in the postnatal life so in postnatal life we see only unilateral multi-cystic kidney disease it may be isolated or there may be additional urogenital tract anomalies which is seen in about 35% most of which is contralateral puj obstruction forms 30% or there may be extraordinary anomalies in 15% or altosomal multi-cystic dysplastic kidney seen as multiple disorganizes of varying size as seen here in the sagittal and transverse scan this is non-communicating and this is replace the whole kidney and lacking any normal surrounding parenchyma so here you don't see any parenchyma around the cis so these are the characteristic features of multi-cystic dysplastic kidney now this has to be differentiated it can be mimicked by puj obstruction as seen here this is a sagittal scan so the appearance may be multi-cystic dysplastic kidney or hydronephrosis so the crucial technique is to take a coronal scan so with coronal scan the cis are actually dilated peripheral kinesis communicating with the medial large pelvis and the ureter is not dilated and the paren, there is surrounding parenchyma which may be thinned out so this shows that this is puj obstruction in contrast here this is a sagittal scan multi-cystic kidney and coronal scan the appearance is the same the cis of varying size non-communicating very crucial differentiating point and there is no surrounding parenchyma then the diagnosis multi-cystic dysplastic kidney so these are the differentiating points now multi-cystic dysplastic kidney the variations are it can present atypically here it may form it may be segmented involving only one moiety of a doplex kidney here the upper half of the kidney is normal whereas the lower half of the kidney is typical of multi-cystic dysplastic kidney and here again another example the lower half of the kidney is normal the upper half shows features of multi-cystic dysplastic kidney or it can be involving one moiety of a horseshoe kidney or an ectopic kidney so here this is an example of multi-cystic dysplasia of one moiety of a horseshoe kidney here is a coronal scan of the right flank showing that the kidney is not seen but there are a few cysts in the right renal area and the scan of the left flank shows the lower pole is more medial and the contour of the lower pole is not clear it is mineralized to a suspicion of horseshoe kidney and when you do a transverse scan for the ectomus the ectomus is seen but it is replaced by multiple cysts the right side of the ectomus is replaced by multiple cysts suggestive of multi-cystic dysplasia of the right kidney so this is features of multi-cystic dysplasia of one moiety that is the right moiety of the horseshoe kidney another variation is multi-cystic dysplasia of one moiety of an L shaped kidney on the left side this is coronal flank on the right side you see that the kidney is absent it is empty right renal fossa on the coronal scan of the left flank shows the more medial lower pole and with a little anterior tilt of the transducer you see a cyst medial to the lower pole of left kidney and when you do a transverse scan you see the typical appearance of multi-cystic dysplasia involving the horizontal right kidney of the L shaped kidney so this is an example of multi-cystic dysplasia of the horizontal right kidney of an L shaped kidney it can also involve crostectopic kidney here this is coronal scan of the left flank the left renal fossa is empty and the right kidney was normal and search for an ectopic kidney shows that there is a multi-cystic dysplasia of the crostectopic right kidney in the right renal fossa in children with unilateral multi-cystic dysplastic kidney the contralateral kidney should be monitored with serial ultrasound to ensure continued appropriate compensatory hypertrophy involving that kidney and also to look for involution because the multi-cystic dysplastic kidney has potential to involute there is no evidence for an increased risk of malignancy in multi-cystic dysplasia in children and young adults so monitoring solely to exclude malignancy is not necessary so multi-cystic dysplasia is usually unilateral in post-natal life most of them involute and so it is compatible with normal life there may be genital malformations in a female so here you see multi-cystic dysplasia of the left kidney at one year of age when followed up you see that it is completely disappeared so complete involution of the multi-cystic dysplasia has happened then we come to the next condition of bilateral cyst isolated it is autosomal recessive polycystic kidney disease and congenital hepatic fibrosis this is the combination this is the most common celiopathy it affects liver and kidneys of varying degree in kidneys there is non-obstructive fusiform dilatation of the renin correcting ducts in enlarged renal pyramids in liver there may be hepatic fibrosis or ductal plate malformation when there is fibrosis it is progressive leading to portal hypertension and ductal plate malformation leads to dilated bile ducts and cysts the incidence is 1 in 20,000 live births there is no sex predilection 50% of patients develop kidney failure by age of 10 years there is extreme variability in the clinical manifestation of this condition and it is caused by mutation of the PKHD gene on 6p12 chromosome here you see the celiopathy that is the normal development of the celia results in normal kidney abnormal celia results in abnormal collecting duct resulting from resuscitant polystic kidney disease and as a result involving the celia in the liver results in abnormal cysts in the liver or dilated bile ducts. So on ultrasound the ARPKD you see bilateral markedly enlarged kidneys as seen in the images the uniform shape is maintained and the contour is smooth and the pairing cameras hyper-echoic and homogenously hyper-echoic and there is a sonolosin trim of cortex around in the periphery this compression of the cortex by the enlarged inner pyramids and the corticometallary differentiation is lost because mainly the cortex gets thinned out and the sinus ecosystem is not distinguished these are very characteristic features of autism and resuscitant polystic kidney disease. There may be certain variations of appearance now here bilateral enlarged kidneys but the main difference is the corticometallary differentiation is reversed so here you see the arena pyramids are enlarged and echogenic whereas the cortex is a copover and normally the medulla will be a copover sinus echoes are not distinguished and when you use high frequency transducers you see that the pyramids are enlarged with tiny cis as well as tomatill artifacts because of milk of calcium in the tiny cis now this cis are so small that in the convox probe they are not delineated but the enhancement is seen resulting in enlarged echogenic pyramids now another appearance is enlarged kidneys with an enlarged corticometallary differentiation so the normal copover pyramids and echogenic cortex gets enhanced because of the cis in the medulla and when you use high frequency transducer you see that the renal pyramids are markedly enlarged and you see the tiny tubular cis replacing the renal pyramids so as a result the corticometallary differentiation is enhanced. Now here again a case of ARPKD the convox probe shows enlarged kidneys and when you use high frequency you see the typical enlarged pyramids with tiny tubular cis the entire pyramids are replaced with tiny tubular cis another example of ARPKD in the convox probe and when you use high frequency probe you see the enlarged pyramids with tiny tubular ducts as well as you may see certain few macro cis as seen here so another appearance of ARPKD is enlarged enlarged kidneys with the heterogeneous parankimal echogenicity with a salt and pepper pattern you see the salt and pepper pattern seen in the enlarged renal pyramids which is due to and when you use high frequency you see that it is due to enlarged pyramids with tiny cis as well as cobalt tails because of milk calcium in some cis so this is another appearance of ARPKD so appearance is highly variable so another example of ARPKD but here there may be abnormal liver in the form of hepatic fibrosis you see the course the pattern of the liver typical of characteristic of hepatic fibrosis or you may see ductal plate malformation leading to dilated the bile ducts and also cis in the liver without hepatic fibrosis so this is the additional findings you must look for in ARPKD the renal versus hepatic involvement are inversely related so in the early presentation the kidneys are more involved and whereas in late presentation the liver is more involved because of the minimal involvement of the kidney the life gets prolonged so the liver becomes more involved. ARPKD is non curable so prognosis depends on aged diagnosis earlier the age prognosis is poor then we come to the next condition of bilateral cis isolated that is artisomal dominant ballistic kidney disease most common heritable cause of end stage renal disease incidence is 1 in 400 to 1000 tiny percentage present in the fetal life which is artisomal dominant so as a result scan of parents and grandparents has to be done it is due to mutation in the PKD1 and PKD2 genes and 85% is due to mutation of PKD1 gene there can be external disease typically seen as cis in liver pancreas and spleen seminal vesicles which are not seen in the prenatal scans so these cis can present as mass pain hypertension and hematuria so patients result in renal failure in 50% by 60 years so there is a recent international consensus statement on the diagnosis and management of artisomal dominant ballistic kidney in children and young people so this article there isn't article so this lecture covers this article now ADPKD on ultrasound you see enlarged kidneys with multiple cis it is almost always bilateral there may be a variable cis size within the kidney or it may be asymmetrical involvement in the on the right and left side external manifestations may also be seen most commonly include hepatic cis cis are less commonly seen in other kidney organs like pancreas, spleen, ovaries and testis now this is an example of ADPKD where you see enlarged kidneys with multiple cis but the cis size are varying and it is asymmetrical it is less in the right kidney whereas more in left kidney and there are also hepatic cis another example of ADPKD with bilateral cis in the kidneys here you see extraordinary manifestations in the form of multiple hepatic cis is seen in the liver another example of ADPKD the polystic disease of the kidneys and as well as cis in the liver as seen here and also rarely there may be cis in the other organs here this is a transverse scan of the pancreas showing a cis in the body of the pancreas it will rare more commonly in the liver there can be some variations of ADPKD like here can involve an ectopic kidney now this is a coronal scan of the right side showing polystic kidney of the right kidney coronal scan of the left flank shows that the left renal fossa is empty and the search for an ectopic kidney shows sagittal scan of the bladder and polystic kidney of the ectopic pre-cycle kidney and a little more cranial scan shows that the ectopic pre-cycle kidney is replaced by multiple cis typical of polycystic kidney disease and there is also liver cis now in the also a dominant polystic kidneys with a family history that is in high-risk patients because of family history there is a peer-ravein criteria for diagnosis in the age of 15 to 39 years presence of 3 renal cis in both kidneys would confirm the diagnosis in between 40 and 59 years at least 2 cis in each kidney then the diagnosis aged 30 years or older at least 4 cis in each kidney will give the diagnosis of ADPKD ultrasound with 0 or 1 cis at age 40 years excludes ADPKD the cis in ADPKD may show complications of hemorrhage, infection rupture or nephrolithiasis and the ADPKD results in in-stage renal disease now about 50% as the age advances there is no increased risk of renal cell carcinoma now here you see images of ADPKD with bilateral polystic kidneys the cis in the liver on the left side you see fresh plot in one of the cis as seen as a soft tissue mass it may shift in position now fresh clot can also appear as a heterogeneous mass partly filling the cis or completely filling the cis as seen in this images the hemorrhage subacute will result in appearance of internal echoes in the cis as seen here in these 2 images calculate in the collecting system of the polystic kidneys may occur as seen here you see 2 calculate in the lower calyx of left kidney this occurs in 16-25% of ADPKD it can result in renal colic, microscopic or gross hematuria or it can result in urinary tract obstruction so calculate causing urinary tract obstruction in this left kidney you see polystic kidney and they dilated the ureter medial to the cis and it trace the ureter you see a calculus in the upper ureter causing obstruction in the patient presenting with ureteric colic there may be milk of calcium filling the some of the cis in the polystic kidneys very early onset ADPKD can manifest as hyperechoic kidneys prenatally or in the newborn with ultrasound appearance mimicking that of ARPKD or glomerulocystic disease that is you see bilateral enlarged echogenic kidneys and with or without tiny cis in the cortex so this appearance should give rise to a suspicion of ADPKD and if there is a family history then it is diagnostic otherwise there has to be children suspected of having ADPKD without a genetic diagnosis or clear family history confirmatory ultrasound should be performed within 12 months after the initial screening to rule out ADPKD now prognosis of ADPKD 50% of end up in renal failure as the age advances if it is seen prenatally then the prognosis is very poor then we come to the next condition of renal cystic dis renal cystic displace here now the ultrasound appearance is at least one cyst within an abnormal kidney what is abnormal kidney either aperecogenic parenchyma as seen here loss of cortico modulary differentiation or a smaller kidney which are all seen in these two images so this is a cystic displace here now cystic displace here may be isolated or it may be associated with other urinary tract abnormalities of obstruction or vesicuritric reflex or it may form part of many syndromes and chromosomal abrasions and it can involve with our old kidney or it can involve part of the kidney then we come to the non specific pattern of bilateral renal cystic kidney cystic disease where there are no significant features to arrive at a specific diagnosis so only differential diagnosis can be given and it will need supplementary investigations to arrive at a specific diagnosis and the conditions which are presenting as non specific pattern are HNF1B associated disease nephronoptysis and Bowden-Biedel syndrome so HNF1B associated disease is an autosomal dominant inheritance ultrasound appearance can mimic that of ARPKD other cystic nephropathies so it may be associated with genital malformations or pancreatic anomalies diagnosis cannot be made with the kidney imaging alone and requires genetic confirmation so kidney ultrasound in parents and grandparents may provide useful clues to arrive at at the specific diagnosis 50% of cases carry de novo mutations with a negative family history so genetic diagnosis becomes very essential on ultrasound this is presents as bilateral markedly enlarged kidneys echogenic kidneys, corticomandillary differentiation is absent and when you do high frequency scan you may see multiple subcapsulosis which may be a clue for this diagnosis but genetic diagnosis is a must the next condition is nephron of theysis it's autosomal recessive tubular interstitial disease that results in kidney failure by third decade of life and incidence is one in one lakh individuals mutations of the 25 known NPHP related pathogenic genes account for only a third of this condition so this is associated with cystic kidneys coupled with renal fibrosis and interstitial inflammation which results in renal failure ultrasound findings of nephron of theysis are nonspecific so diagnosis cannot be based on imaging findings alone on ultrasound the appearance varies with the two types in infantile type, enlarged kidneys with marked cortical microsyscene normal sized or small kidneys bilateral increased ecogenicity of parenchyma no cortical medullary differentiation since cysts are not universally present they are not mandatory for diagnosis cysts are at the cortical medullary junction or suggestive and isolated renal disease it may be isolated renal disease or form part of a syndrome such as jubat, macrogouver or bordered bedal syndrome now here you see cysts in the cortical medullary junction which may be a clue to the diagnosis of nephron of theysis but it is nonspecific a genetic diagnosis is a must now next condition of renal cystic disease is bordered bedal syndrome it is again autosomal recessive due to mutations in 22 pathogenic genes there is usually a family history but there is extreme phenotypic variation ultrasound findings are again very nonspecific and diagnosis cannot be based on imaging findings alone and needs genetic diagnosis this condition also results in kidney failure as age advances and ultrasound there are wide range of abnormalities it then may be single or multiple cysts, unilateral or bilateral cysts loss of cortical medullary differentiation persistent fetal lobulation there may be associated anomalies like horseshoe kidney ectopic kidney, duplex kidney or absent kidneys there may be urinary tract malformations like obstruction and other clinical features may be obesity, hypogonadism and polydactyly which may give a clue to the diagnosis of this syndrome but genetic diagnosis is necessary other rare condition of renal cystic disease is Gewbert syndrome and related diseases which is again autosomal recessive celiopathy there is extreme genetic heterogeneity over 30 involvement of over 30 genes and but there is a distinctive cerebellar and brainstem defect described as molar tooth sign and with cystic kidney disease congenital hepatic fibrosis skeletal features such as polydactyly so again genetic diagnosis is necessary for this condition the last condition of bilateral renal cystic disease is mectal gruber syndrome which is a severe celiopathy a severe multi-organ phenotype involvement is seen and it results in embryonic or early neonatal mortality so this condition is not seen in the postnatal life another condition of renal cystic disease is a cystic nephroma which is a rare benign tumor occurs in boys younger than 4 years is seen as a painless abdominal mass on ultrasound seen as a well circumscribed encapsulated multi cystic mass as seen in these images well circumscribed encapsulated multi-locular cystic mass and on high frequency you see thick walls in the septa and on color Doppler there is flow in the septa leading to a diagnosis of cystic nephroma so that is the specimen showing the cystic nephroma a rarely there may be other condition you can see a case scenario of a 4 year old boy with pain in the left flank of a 15 days this earlier ultrasound has been reported as a hidated cyst of left kidney CT scan has been reported as mesenchymal malignancy has to be ruled out now this is ultrasound appearance coronal scan and transverse scan of the left flank you see a described multi-locular cyst in the left flank the left kidney is compressed and so the diagnostic steps of this mass abdomen is you have to first see the origin of the mass the nature of the mass and the extent so here in real time you see the mass moving along with the left kidney indicating that it is arising from the kidney but sometimes in the sagittal scan because of the mass extending below the kidney you may get a negative big sign reverse big sign and a high frequency scan of the upper pole shows thickened septa and solid areas in the mass and uncolored opera there is flow in the septa showing that it is a tumor and this is a tumor indicating that it is a tumor and it is not a simple cyst it is not a complex cyst it is not a hydratid cyst so this is a tumor and on spectral there is low resistance flow pattern and scan medially shows enlarged lymph node adjacent to the iota confirming that it is malignancy so the biopsy turned out to be a Wilms tumor cystic form of Wilms tumor with lymph node metastasis rarely a cyst can be a Wilms tumor so renal cystic disease family history is important of cystic disease and parental screening has to be done for cysts in the parents as grandparents and if diagnosis is not derived an autopsy and renal histology has to be done and genetic diagnosis is necessary in most of the conditions when a genetic diagnosis has been done renal diagnosis can be offered for the next pregnancy now in bilateral cystic disease the prognosis depends on the size of the kidney, corticobodylary differentiation the presumptive diagnosis and the renal function test prognosis for solitary cyst is good may be first manifestation of severe disease so have to be followed up and the isolated unilateral multiple cysts that is multi cystic dysplasia there is excellent prognosis now bilateral renal cystic disease can be life limiting examples of macrogroober bilateral multi cystic dysplasia it can involve great prognosis and renal example is autosomal recessive polycystic kidney disease it can lead to chronic kidney disease and renal failure like in ADPKD and there may be mild manifestation seen in bordered middle syndrome renal cystic disease there is very high variability in the age of manifestation it can manifest newborn to third decade life or even prenatally there is heterogeneity in phenotype suppose macrogroober is uniformly seen whereas bordered middle is very highly variable with variable phenotype within the family heterogeneity in the genotype is also there like lack clear genotype phenotype association heterogeneity within the family as seen in bordered middle and overlap congenital anomalies of the urinary tract like asho kidney obstruction etc so there is very high heterogeneity or variability of the renal cystic disease genetic test identifying the specific disease in 50 to 70% of cases of with 2 or more cysts or increased ecogeneity and it gives the test to use disease diagnosis rarely in solutelysis unilateral mcdk and isolated cystic there is a bord phenotype and genotype heterogeneity on the test preferred genetic test is a next generation sequencing if there is a presumptive diagnosis then appropriate genetic test can be offered genetic test should be offered for all renal cystic disease with bilateral cystic disease and you should also dna storage because if there is no genetic diagnosis after the autopsy more specific test can be done with the DNA genetic testing leads to earlier diagnosis which will avoid other diagnostic procedures it establishes definite diagnosis which will indicate comar dts or future complications and there can be focus screening and prevention in the family but it also has the disadvantage of increased anxiety with the genetic diagnosis recurrence risk can be counseled which may influence parents decision in case of grave prognosis prenatal and pre implantation diagnosis can be offered in the next pregnancy with a specific genetic diagnosis in the initial stage so counseling should be non-directive and it should be multi-disciplinary involving a pediatric nephrologist so to conclude there can be early and late manifestation the kidneys may be cystic, ecogenic or normal it can be unilateral or binatil environment of the kidneys the size may be normal or enlarged the condition may be isolated or form part of polymorphomative syndromes with typical or atypical features there is genetic variability so all these features indicate heterogeneity of the renal cystic disease so lastly acute cystic disease this condition where renal cysts in patients with end stage renal disease are seen and you see bilateral atrophic ecogenic kidneys with cysts of varying size in these two kidneys the criteria is at least 3 cysts in each kidney of 0.5 to 3 cm this is seen in 8 to 13% of patients with end stage renal disease and the incidence increases with the length of time of dialysis and male to female ratio is 3 is to 1 more common in males thank you for your patient listening