Multiple Bilateral Renal Cysts Research Articles

Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing

Autosomal dominant polycystic kidney disease (ADPKD) is a form of polycystic kidney disease (PKD) in which cysts develop within the kidneys, causing the kidneys to enlarge and lose function over time. ADPKD is caused by mutations in two major genes: PKD1 and PKD2. By whole exome sequencing (WES), we identified a heterozygous missense PKD1 variant (NM_001009944: c.10529C>T, p.T3510M) in a proband from a 2-generation Vietnamese family, in which the proband presented a bilateral renal enlargement and multiple bilateral renal cysts. The segregation of this known mutation was confirmed using Sanger sequencing. The proband and his affected mother were carriers for the mutation, while his father and his sister were wild types. The findings of this study enable doctors to comprehend the underlying genetic cause of polycystic kidney disease and elect appropriate treatment for the patients.

A Case Report of Successful Kidney Transplantation in a Patient With Autosomal Dominant Polycystic Kidney Disease Who Underwent Thoracic Endovascular Aortic Repair for Type B Aortic Dissection

Autosomal dominant polycystic kidney disease (ADPKD) is associated with several cardiovascular disorders, including aortic dissection, which preferentially occurs at the thoracic or abdominal level. Because there are few case reports describing surgical repair for aortic dissection followed by renal transplantation in patients with ADPKD, kidney transplantation performed after repair for aortic dissection remains challenging. A 34-year-old Japanese man with end-stage renal disease secondary to ADPKD underwent thoracic endovascular aortic repair for complicated acute type B aortic dissection 12 months earlier. A contrast computed tomography scan before transplantation revealed an aortic dissection involving the descending aorta proximal to the common iliac arteries and confirmed multiple large bilateral renal cysts. After simultaneous right native nephrectomy, the patient underwent preemptive living-donor kidney transplantation obtained from his mother. Intraoperatively, we noted that dissection of the external iliac vessels was difficult because of dense adhesions. Arterial clamping was performed immediately below the bifurcation of the internal iliac artery to prevent further aortic dissection of the external iliac artery. After end-to-end anastomosis to the internal iliac artery was completed and the vascular clamp was released, the kidney began to produce urine immediately. This case suggests that kidney transplantation in patients undergoing endovascular aortic repair for aortic dissection can be performed by adequately applying a vascular clamp proximal to the internal iliac artery during vascular anastomosis.

A Rare Cause of Liver Fibrosis in an Adolescent Woman

A Rare Cause of Liver Fibrosis in an Adolescent Woman

POS-139 AN ATYPICAL PRESENTATION OF DUAL-POSITIVE ANTI-MYELOPEROXIDASE AND ANTI-GLOMERULAR BASEMENT MEMBRANE ANTIBODIES VASCULITIS WITH PULMONARY-RENAL SYNDROME : A CASE REPORT

Double-positive vasculitis with anti-polynuclear cytoplasm (ANCA) and anti-glomerular basement membrane (GBM) antibodies is a rare entity of systemic vasculitis defined by the presence of ANCA and anti-GBM antibodies. We report a rare case of pulmonary-renal syndrome with atypical clinical presentation. A 52 year-old smoking man with a history of exposure to hydrocarbons and uretheral lithiasis, presented in April 2021 epigastralgia and vomiting. the investigations concluded to H.pylori gastritis and ulcer and he received a quadruple therapy. The kidney function was correct in April 2021. The evolution was marked by the persistence of symptoms and urine output had decreased for a few days. He was found to have renal dysfunction (serum creatinine: 2000 µmol/L). Abdominal CT scan without iodinated contrast injection showed severe hydronephrosis of the right pelvicalyceal system with cortical thinning and dilatation of the right ureter. The two kidneys had regular outlines seat multiple bilateral renal cysts with exophytic development. He had a nephrosomy with secondarily a right double-J stent with slight improvement of renal function. The patient presented then with acute respiratory distress.Testing for COVID-19: PCR and serology were negatives. Chest CT scan showed alveolar syndromeevoking pulmonary overload. No pneumopathy covid was shown. The evolution was marked by the non improvement by depletion and he developed hemoptic sputum and low-abundance epistaxis. The attitude was non-invasive ventilation and broad-spectrum antibiotics therapy. Control chest CT showed emphysematous lung with signs of fibrosis with bilateral subpleural nodules. A rereading of the scanner showed intraalveolar hemorrhage which has regressed on the imaging of the control. Based on these data, pneumo renal syndrome was suspected and a bronchoscopy was performed showing alveolar hemorrhage with 70% siderophageswith Gold score superior to 100. Anti-GBM and p-ANCA and antibodies were positive at a high titer. Electroneuromyogram was without anomaly. Kidney biopsy was not done because of the presence of multiple cysts. The patient received pulse methylprednisone for three days followed by oral prednisone and underwent eleven sessions of plasmapheresis. Intraveinous Cyclophosphamide has been started. He showed remarkable recovery as his lung fields cleared with negativity of GBM antibodies. Kidney function didn't improved and he remained dependent on dialysis. Our observation is exceptional since the clinical and radiological presentation of the patient was not that of a pulmonary-renal syndrome. The elements of this syndrome have in fact been masked by the obstacle on the urinary tract on one hand and the hypothesis of a covid19 pneumonia on the other hand in the face of the epidemiological context. Atypical feature of pulmonary renal syndrome should be kept in mind to avoid diagnostic and treatment delays.

Loss of PKD1 and PKD2 share common effects on intracellular Ca2+ signaling

In polycystic kidney disease (PKD) multiple bilateral renal cysts gradually enlarge causing a decline in renal function. Transepithelial chloride secretion through cystic fibrosis transmembrane conductance regulator (CFTR) and TMEM16A (anoctamin 1) drive cyst enlargement. We demonstrated recently that a loss of PKD1 increases expression and function of TMEM16A in murine kidneys and in mouse M1 collecting duct cells. The data demonstrated that TMEM16A contributes essentially to cyst growth by upregulating intracellular Ca2+ signaling. Enhanced expression of TMEM16A and Ca2+ signaling increased both cell proliferation and fluid secretion, which suggested inhibition of TMEM16A as a novel therapy in ADPKD. About 15 % of all ADPKD cases are caused by mutations in PKD2. To analyze the effects of loss of function of PKD2 on Ca2+ signaling, we knocked-down Pkd2 in mouse primary renal epithelial cells in the present study, using viral transfection of shRNA. Unlike in Pkd1-/- cells, knockdown of PKD2 lowered basal Ca2+ and augmented store-operated Ca2+ entry, which was both independent of TMEM16A. However, disease causing purinergic Ca2+ store release was enhanced, similar to that observed in Pkd1-/- renal epithelial cells. The present data suggest pharmacological inhibition of TMEM16A as a treatment in ADPKD caused by mutations in both PKD1 and PKD2.

Cyst growth in ADPKD is prevented by pharmacological and genetic inhibition of TMEM16A in vivo

In autosomal dominant polycystic kidney disease (ADPKD) multiple bilateral renal cysts gradually enlarge, leading to a decline in renal function. Transepithelial chloride secretion through cystic fibrosis transmembrane conductance regulator (CFTR) and TMEM16A (anoctamin 1) are known to drive cyst enlargement. Here we demonstrate that loss of Pkd1 increased expression of TMEM16A and CFTR and Cl− secretion in murine kidneys, with TMEM16A essentially contributing to cyst growth. Upregulated TMEM16A enhanced intracellular Ca2+ signaling and proliferation of Pkd1-deficient renal epithelial cells. In contrast, increase in Ca2+ signaling, cell proliferation and CFTR expression was not observed in Pkd1/Tmem16a double knockout mice. Knockout of Tmem16a or inhibition of TMEM16A in vivo by the FDA-approved drugs niclosamide and benzbromarone, as well as the TMEM16A-specific inhibitor Ani9 largely reduced cyst enlargement and abnormal cyst cell proliferation. The present data establish a therapeutic concept for the treatment of ADPKD.

Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome

Most reports of post-transplant erythrocytosis have involved kidney recipients and, so far, there have been no large studies of onset of erythrocytosis after orthotopic liver transplantation (OLT) in children. We present a long-term survey of pediatric liver recipients, evaluating prevalence, outcome and the main potential causes of erythrocytosis, including a comprehensive mutational analysis of commonly related genes (mutations of HBB and HBA, JAK2, EPOR, VHL, EPAS1 and EGLN1). Between 2000 and 2015, 90 pediatric OLT recipients were observed for a median period of 8.7 years (range 1–20.4 [IQR 4.9–13.6] years). Five percent of the study population (4 males and 1 female) developed erythrocytosis at 8.5 years post OLT (range 4.1–14.9 [IQR 4.7–14.7]) at a median age of 16.6 years (range 8.2–18.8 [IQR 11.7–17.7]). Erythrocytosis-free survival after OLT was 98.6% at 5 years, 95% at 10 years, and 85% at 15 years, with an incidence rate of 6/1000 person-years. No cardiovascular events or thrombosis were reported. No germinal mutation could be clearly related to the development of erythrocytosis. One patient, with high erythropoietin levels and acquired multiple bilateral renal cysts, developed clinical hyper-viscosity symptoms, and was treated with serial phlebotomies. In conclusion, this prospective longitudinal study showed that erythrocytosis is a rare complication occurring several years after OLT, typically during adolescence. Erythrocytosis was non-progressive and manageable. Its pathogenesis is still not completely understood, although male gender, pubertal age, and renal cysts probably play a role.

Problem diagnostic of Krukenberg tumor

Objectives: to report the case of Krukenberg tumor in 57 years old woman, with complaints of abdominal enlargement since the last 10 months.Case Report: a 57 years old woman, multipara, post menopause, came to our hospital with complaints of enlarging abdomen. Abdominal physical examination showed enlarging abdomen, hard palpable mass, measured 17 cm in diameter, and limited mobility. Abdominal CT result showed solid mass of the right adnexal, expanding to upper right abdomen, omental cake, ascites, and left pleural effusion, right lobe hepatic cyst and multiple bilateral renal cysts. Patient was diagnosed as solid ovarian tumor, suspicious of malignancy. Colonoscopy revealed hemorrhoid interna. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was done. Histopathologic findings showed malignant ovarian tumor, signet ring cell carcinoma of the cervics, endometrium, myometrium, nodule in gastrocolica ligament, and prevesica urinaria nodule. IHC examination of the ovarian tumor showed possible source was of colorectal, supporting the diagnosis of Krukenberg tumor with CK20 (+) and CK7 (-)Conclusion: Krukenburg tumor is a rare ovarian malignancy. Clinical symptoms usually consist of abdominal distension, pain caused by large ovarian mass. Diagnosis of Krukenburg tumor is confirmed by characteristic histologic findings of malignant signet ring cells with cellular stroma. Management for ovarian tumor is surgery removal, with very poor prognosis.

Problem diagnostic of Krukenberg tumor

Objectives: to report the case of Krukenberg tumor in 57 years old woman, with complaints of abdominal enlargement since the last 10 months. Case Report: a 57 years old woman, multipara, post menopause, came to our hospital with complaints of enlarging abdomen. Abdominal physical examination showed enlarging abdomen, hard palpable mass, measured 17 cm in diameter, and limited mobility. Abdominal CT result showed solid mass of the right adnexal, expanding to upper right abdomen, omental cake, ascites, and left pleural effusion, right lobe hepatic cyst and multiple bilateral renal cysts. Patient was diagnosed as solid ovarian tumor, suspicious of malignancy. Colonoscopy revealed hemorrhoid interna. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was done. Histopathologic findings showed malignant ovarian tumor, signet ring cell carcinoma of the cervics, endometrium, myometrium, nodule in gastrocolica ligament, and prevesica urinaria nodule. IHC examination of the ovarian tumor showed possible source was of colorectal, supporting the diagnosis of Krukenberg tumor with CK20 (+) and CK7 (-) Conclusion: Krukenburg tumor is a rare ovarian malignancy. Clinical symptoms usually consist of abdominal distension, pain caused by large ovarian mass. Diagnosis of Krukenburg tumor is confirmed by characteristic histologic findings of malignant signet ring cells with cellular stroma. Management for ovarian tumor is surgery removal, with very poor prognosis.

Il paziente con rene policistico negli ambulatori italiani

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. PKD is a multisystem disorder associated with multiple bilateral renal cysts, slowly increasing kidney size and progressive chronic kidney disease. Approximately 50% of individuals with PKD will require renal replacement therapy by the sixth decade of life. More than 80% will also have multiple liver cysts, which can lead to local pressure effects. Cerebral haemorrhage, secondary to rupture of a berry aneurysm, occurs in up to 8% of individuals. Mitral valve prolapse occurs in up to 25% of patients. Patients with ADPKD have a worsening in the quality of life and a burden of disease similar to cancer patients. The quality of correct information given to patients and a warm reception have a positive impact on patients with ADPKD and contribute to an efficacious treatment program. AIRP conducted a survey to investigate the ADPKD patient journey, meaning the personal experience and expectations of people regarding factors such as disease management, relationships with the nephrologists and their team, and therapies. The survey was conducted on 370 people with ADPKD, using computer-assisted web interviewing (CAWI). The results show that patients with ADPKD with a good relationship with their care team, both nephrologist and nurse, respond better to therapies. Warm reception, dialogue, communication, support, clear explanation, reassurance and guidance altogether contribute to a successful treatment of every single person with ADPKD.

Il paziente con rene policistico negli ambulatori italiani

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. PKD is a multisystem disorder associated with multiple bilateral renal cysts, slowly increasing kidney size and progressive chronic kidney disease. Approximately 50% of individuals with PKD will require renal replacement therapy by the sixth decade of life. More than 80% will also have multiple liver cysts, which can lead to local pressure effects. Cerebral haemorrhage, secondary to rupture of a berry aneurysm, occurs in up to 8% of individuals. Mitral valve prolapse occurs in up to 25% of patients. Patients with ADPKD have a worsening in the quality of life and a burden of disease similar to cancer patients. The quality of correct information given to patients and a warm reception have a positive impact on patients with ADPKD and contribute to an efficacious treatment program. AIRP conducted a survey to investigate the ADPKD patient journey, meaning the personal experience and expectations of people regarding factors such as disease management, relationships with the nephrologists and their team, and therapies. The survey was conducted on 370 people with ADPKD, using computer-assisted web interviewing (CAWI). The results show that patients with ADPKD with a good relationship with their care team, both nephrologist and nurse, respond better to therapies. Warm reception, dialogue, communication, support, clear explanation, reassurance and guidance altogether contribute to a successful treatment of every single person with ADPKD.

A child with bilateral multiple renal cysts presenting with ascites and pleural effusion: Questions

A child with bilateral multiple renal cysts presenting with ascites and pleural effusion: Questions

Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four yearold girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present. Key words: ADPKD; Agenesia; PKD1; Kidney; Polycystic

Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease

Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed. Result: Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases. Conclusion: Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

Mucocele of Appendix

A 55 years old patient presented with pain in the right lumber region/Right iliac fossa for last two months. He also complains of fever off and on for last 2-3 months. He got intermittent treatment from one of the rural health centre in Manga Mendi Lahore. On examination in surgical emergency there was a mobile mass felt in the right iliac fossa. On abdominal ultrasound there was a long 11 X 5 cm well defined tubular mass with blind end is seen in the right iliac fossa. The mass is mobile while pressing with the ultrasound probe. This tubular structure shows typical Onion skin appearance. There was no evidence of any free fluid in the vicinity & in pelvis. No evidence of enlarged mesenteric lymph nodes noted in Right Iliac fossa. This tubular mass was clearly separated from the iliac vessels & ileal loops. Other findings on ultrasound was bilateral multiple renal cysts and two calculi impacted in the right utero-vesical junction with mild to moderate retrospective obstructive uropathy. The diagnosis on ultrasound was Mucocele of Appendix. On surgery there was large 11-12 cm tubular mass seen in the right iliac fossa which is freely mobile. The mass was surgically removed. On dissection there was whitish thick secretion seen coming out of the tubular mass. On histopathology Mucocele of appendix is confirmed

Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cause of chronic kidney disease stage 5 and represents 3% to 10.3% among patients undergoing dialysis in Brazil. The ADPKD is caused by mutations in one of two genes, PKD1 or PKD2 encoding hence the polycystins 1 and 2 involved in cyst formation. The disease is characterized by progressive growth and development of multiple bilateral renal cysts which lead to loss of kidney function. The ADPKD presents several renal and extrarenal clinical manifestations, and comorbidities. Some diagnostic strategies are regarded as first choice for clinical and molecular investigation of the ADPKD. The knowledge of molecular aspects in association with the clinical manifestations presented by the epidemiology of the disease provides better understanding of the mechanisms of cystogenesis and greater diagnostic accuracy

Inactivation of integrin-β1 prevents the development of polycystic kidney disease after the loss of polycystin-1.

Dysregulation of polycystin-1 (PC1) leads to autosomal dominant polycystic kidney disease (ADPKD), a disorder characterized by the formation of multiple bilateral renal cysts, the progressive accumulation of extracellular matrix (ECM), and the development of tubulointerstitial fibrosis. Correspondingly, cystic epithelia express higher levels of integrins (ECM receptors that control various cellular responses, such as cell proliferation, migration, and survival) that are characteristically altered in cystic cells. To determine whether the altered expression of ECM and integrins could establish a pathologic autostimulatory loop, we tested the role of integrin-β1 in vitro and on the cystic development of ADPKD in vivo. Compared with wild-type cells, PC1-depleted immortalized renal collecting duct cells had higher levels of integrin-β1 and fibronectin and displayed increased integrin-mediated signaling in the presence of Mn(2+). In mice, conditional inactivation of integrin-β1 in collecting ducts resulted in a dramatic inhibition of Pkd1-dependent cystogenesis with a concomitant suppression of fibrosis and preservation of normal renal function. Our data provide genetic evidence that a functional integrin-β1 is required for the early events leading to renal cystogenesis in ADPKD and suggest that the integrin signaling pathway may be an effective therapeutic target for slowing disease progression.

A strange epigastric pain.

A 53-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) and Stage 2 chronic kidney disease was hospitalized for early satiety, nausea, vomiting and epigastric pain. An abdominal computed tomography scan confirmed the presence of multiple bilateral renal cysts, and a markedly enlarged liver due to the presence of multiple enormous cysts (the biggest one 20 × 16 cm) occupying most of the abdomen and compressing the stomach and other surrounding structures. The patient underwent laparoscopic cyst fenestration. The large cyst was punctured and aspirated with laparoscopic aspiration needle and subsequently deroofed by using ultrasonic dissection. The procedure induced liver volume reduction with subsequent symptom relief. Liver involvement is the most frequent extra-renal manifestation in ADPKD [1–3]. Symptoms in patients with polycystic liver are mostly absent, but they may develop because of increasing cyst size [4]. Several therapeutic options are presently available for the management of symptomatic hepatic cysts, which include aspiration–sclerotherapy, cyst fenestration, partial liver resection and liver transplantation [5]. Laparoscopic fenestration has become the standard of care for symptomatic hepatic cysts (Figure 1). Fig. 1. (A, B, C) CT scan of large cyst (arrowheads) arising from II to III hepatic segment (axial, coronal and sagittal sections). (D, E, F) Intra-operative laparoscopic images of cyst fenestration and omentoplasty. (D) Hepatic cysts (arrow). (E) Detail of compression ...

Anoctamin 1 induces calcium-activated chloride secretion and proliferation of renal cyst–forming epithelial cells

Polycystic kidney diseases are characterized by multiple bilateral renal cysts that gradually enlarge and lead to a decline in renal function. Cyst enlargement is driven by transepithelial chloride secretion, stimulated by enhanced levels of cyclic adenosine monophosphate, which activates apical cystic fibrosis transmembrane conductance regulator chloride channels. However, chloride secretion by calcium-dependent chloride channels, activated through stimulation of purinergic receptors, also has a major impact. To identify the molecular basis of calcium-dependent chloride secretion in cyst expansion, we determined the role of anoctamin 1 and 6, two recently discovered calcium-activated chloride channels both of which are expressed in epithelial cells. We found that anoctamin 1, which plays a role in epithelial fluid secretion and proliferation, is strongly expressed in principal-like MDCK cells (PLCs) forming cysts within a collagen matrix, in an embryonic kidney cyst model, and in human autosomal dominant polycystic kidney disease tissue. Knockdown of anoctamin 1 but not anoctamin 6 strongly diminished the calcium-dependent chloride secretion of PLCs. Moreover, two inhibitors of anoctamin ion channels, tannic acid and a more selective inhibitor of anoctamin 1, significantly inhibited PLC cyst growth and cyst enlargement in an embryonic kidney cyst model. Knockdown of ANO1 by morpholino analogs also attenuated embryonic cyst growth. Thus, calcium-activated chloride secretion by anoctamin 1 appears to be a crucial component of renal cyst growth.

Association of PKD1 sequence variants with pathophysiology of ADPKD in Indian patients

Background Autosomal dominant polycystic kidney disease (ADPKD) is a systemic conditions with cardinal symptom of bilateral multiple renal cysts of variable sizes. ADPKD is genetically heterogeneous, Mendelian disorder, shows late onset and contributes 8-10% cases of end stage renal disease (ESRD). Linkage analysis in ADPKD familial cases revealed approximately 85% cases of PKD1, rest cases of PKD2 and an unidentified locus. Materials & methods In the present study occurrence of mutation, amino acid change and three frequently observed SNPs from 3’single copy region (exon 44-46) and in 5’ duplicated region (exon 2-11) of were screened in 47 patients (24 sporadic and 23 familial) and in control individuals to search the responsible and/or susceptible spots for ADPKD in Indian patients using direct DNA sequencing of specified exons and RFLP for SNP assay. PKD1 exons 44-46 encoding intracellular and exons 2-11 encoding ligand binding domains, Ig-like PKD domains in extracellular compartment with their suggested role in cell signaling and cell adhesion were chosen for this study. Results