Autosomal Recessive Polycystic Disease Research Articles

Fetal renal cystic disease and post-natal follow up-a single center experience.

Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established. We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease. Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared. In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%). Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

Polycystic kidney and hepaticdisease 1 mutations lead to childhood autosomal recessive polycystic kidney disease with Carolis disease in 1 case and literature review

Polycystic kidney and hepaticdisease 1 mutations lead to childhood autosomal recessive polycystic kidney disease with Carolis disease in 1 case and literature review

Unilateral Enlargement of Kidney: A Rare Manifestation of Autosomal Recessive Polycystic Kidney Disease

Background: Autosomal recessive polycystic disease (ARPKD) is a heritable but phenotypically variable disorder characterized by varying degrees of nonobstructive renal collecting duct ectasia, hepatic biliary duct ectasia and fibrosis of both liver and kidney. The phenotypes of the ARPKD are distinguished by the age of the diagnosis at presentation and the predominance of renal over hepatic manifestations or vice versa. Sonography is currently the imaging technique of choice in children with renal cystic disease. Classic ARPKD is evident at birth with symmetrically enlarged kidneys with increased Parenchymal echogenicity at ultrasound with using a curved array transducer. In previous reports, nephromegaly is a constant imaging finding at the time of diagnosis. Asymmetrical enlargement has only been reported in one case report and the current case report is the second observation in this regard. Case Presentation: A preterm neonate with suspicious RT renal mass and oligohydramnios at prenatal ultrasound was hospitalized due to respiratory distress and hypertension. Although postnatal ultrasound showed enlarged echogenic Rt kidney and normal sized echogenic Lt Kidney, regarding to linear array transducer findings, ARPKD was considered rather than renal mass. The diagnosis was confirmed after nephrectomy and histologic examination. Conclusions: Because the abnormality in ARPKD affects the renal tubules, high resolution sonographic techniques with linear array transducer are well suited to the imaging of this disease. Although, the patient showed asymmetric renal enlargement, unique findings on linear array transducer help to diagnosis of ARPKD regardless of renal size. Also, the finding of asymmetric renal enlargement in this patient adds another radiologic finding that could be associated with ARPKD.

How Does Autosomal Recessive Polycystic Kidney Disease Progress to Kidney Failure

Autosomal recessive polycystic kidney disease (ARPKD) can cause death in the neonatal period; however, the majority of children with this condition now

Fibropolycystic disease of the liver and kidney in Oman

Background and study aimsFibropolycystic disease of liver and kidney (FPCDLK) is an uncommon group of conditions inherited in an autosomal fashion. The group encompasses autosomal dominant polycystic disease of the kidney (ADPDK), autosomal recessive polycystic disease of the kidney (ARPDK), congenital hepatic fibrosis (CHF) and Caroli’s disease (CD). There are limited data of this disease in the world. We report our experience in the Royal Hospital (RH) in Oman and data regarding long-term follow-up.The aim of the study was to document the frequency of encounter, clinical presentation and outcome of FPCDLK in Division of Child Health in RH, Muscat. Patients and methodsCharts of patients diagnosed with ARPDK, ADPDK, CHF and CD were reviewed from the period of 16 February 2006 till 31 December 2011. Parameters including anthropometry, liver function tests, renal function tests, presence of oesophageal varices, hypersplenism, renal or liver transplantation and performance of porto-systemic shunt surgeries were all investigated. ResultsA total of 33 patients were identified, including 19 males and 14 females. The frequency of encounter of FPCDLK in RH was 1.5/1,000,000 population. The mean age of patients was 7.4years. The mean age at diagnosis was 27months. The mean duration of follow-up was 5.5years. A total of 31% of patients had an incidental finding of hepatomegaly, and 25% were detected by antenatal screening. Three children presented with renal failure, and 13 children in total had renal function abnormalities by the end of the study period. One child presented with haematemesis at the age of 1year. Two children underwent renal transplant and one child required splenectomy with a splenorenal shunt. A total of 54% had endoscopic variceal screen and two required banding on first endoscopy. The demise of one patient was observed during the study. ConclusionFPCDLK is uncommon in Oman but carries major mortality and morbidity for the patient and family. The gene is present in the Gulf countries. Management is mainly through portal hypertension and renal supportive care until definitive dual organ transplant. This disease needs to be further investigated in the Arab world.

Erratum to: Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Erratum to: Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent. We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of PKD1 and no demonstrable abnormalities of PKD2 or PKHD1. Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. Accurate diagnosis is essential forgenetic counseling [corrected].

Gene diagnosis and clinical characteristics of autosomal recessive polycystic kidney disease

Gene diagnosis and clinical characteristics of autosomal recessive polycystic kidney disease

Paediatric liver transplantation in Johannesburg: initial 29 cases and prospects for the future.

The Wits Donald Gordon Medical Centre paediatric liver transplant programme is the second such unit in sub-Saharan Africa. Initiated in November 2005, it forms part of the centre's solid organ transplant unit, comprising kidney, liver and simultaneous kidney-pancreas arms. Initially established in the private sector, we recently received government approval to expand our programme into the provincial sector and have performed transplants on several provincial-sector patients. Current challenges relate to the lack of appropriately trained paediatric sub-specialists, specifically critical care practitioners and hepatologists. Subsequent to institutional approval, a retrospective chart analysis of all paediatric liver transplants performed at our facility to date was conducted. Defining children as those under 18 years of age, 29 patients have received a cadaveric liver transplant since 2005, using 16 whole livers, 10 reduced-size grafts, and 3 split segments; 13 were transplanted with biliary atresia, 3 hyperoxalurea, 3 autosomal recessive polycystic disease, 2 alpha-1 antitrypsin deficiency, and 2 idiopathic, with the remainder for a wide spectrum of other pathologies. Seven patients received combined liver-kidney transplants. There were 3 in-hospital mortalities. The remaining 26 patients are all long-term survivors. We describe 7 acute surgical morbidities in 6 patients, and 8 long-term surgical morbidities. One patient was subsequently re-transplanted in Cape Town. Despite a shortage of organs, we have overcome a steep learning curve, with results comparable with other early series. The current threat to the continued viability of our unit is the lack of appropriately trained paediatric hepatologists and intensivists.

Bilateral renal lymphangioma - An incidental finding

Renal lymphangiectasia is a very rare benign disorder of the renal lymphatics. It is known by many different names including renal lymphangiomatosis, parapelvic lymphangiectasia, hygroma renale and polycystic disease of the renal sinus.[1] The origin is unclear and it is generally regarded as a developmental malformation of the renal lymphatic system. It may be seen at any age. Familial association has been reported in some cases.[2] It can be confused clinically, radiologically, and surgically with autosomal dominant polycystic kidney disease in adults, and autosomal recessive polycystic disease in children. However, on imaging, these cysts are large, thin walled, parapelvic and central retroperitoneal in location. Renal parenchyma is relatively normal as against the other two conditions.[2] Clinically, it is usually asymptomatic and incidentally diagnosed.[1] The complications include hematuria, ascitis, occasional deterioration in renal function and rennin dependent hypertension.[3] The treatment of asymptomatic cases is not required. When collections are very large and causing pressure symptoms, percutaneous drainage may be carried out.[1] We report the case of a 28-year-old male patient who presented with mild dull aching pain abdomen for the past seven years. There was no other significant history in the past. An ultrasound was performed six years back with aspiration of approximately 20 ml fluid from the lesion for diagnostic purposes and he was diagnosed with renal lymphangioma. He was put on symptomatic treatment and asked to come for regular follow-up. During the present visit his renal functions were normal. Intravenous urography (IVP) revealed normal function bilaterally. However, the calyces were distorted [Figure 1]. Figure 1 IVU image taken at 15 minutes reveals distortion of calyceal outline Ultrasonography (USG) revealed multiple cysts in the perirenal and peripelvic location, on both sides, distorting the renal outline [Figure 2]. Figure 2 Axial USG image of the right kidney reveals multiple cysts in the perirenal region and the region of the pelvis Computed tomography (CT) and magnetic resonance imaging (MRI) revealed that the cysts were non-enhancing and were of cystic density on CT, [Figure 3] while they were of hypo-intermediate signal intensity on T1-weighted images and hyper intense on T2-weighted images [Figures ​[Figures44 and ​and5].5]. On no imaging modality was the parenchyma of the kidneys involved, however, it appeared markedly reduced in volume at the present visit. In view of the apparent parenchymal compromise, approximately 600 mL of chylous fluid was drained from both sides. The aspirated fluid was rich in protein and contained rennin. On microscopic examination only a few lymphocytes were seen, while no organism was isolated on culture of the fluid. Figure 3 Reformatted contrast enhanced coronal CT image reveals non enhancing extra-parenchymal hypo dense cysts in the perirenal region and the region of the pelvis of both the kidneys (more on the left side) causing distortion of the underlying parenchyma without ... Figure 4 Axial non-contrast enhanced T1-W MR scan at the level of the kidneys reveals that the cysts are of hypo-intermediate signal intensity Figure 5 Coronal T2-W MR scan at the level of kidneys reveals that the cysts are of hyper intense signal intensity We present this case to highlight the benign nature of this condition as against the conditions it can be confused with.

Kusma yakınması ile başvuran 12 aylık kız hasta Ayın Olgusu

Cystic diseases of liver are recognized in infancy and childhood initially Cystic diseases of liver and biliary tract are choledocal cysts autosomal recessive and autosomal dominant polycystic kidney disease congenital hepatic fibrosis and Caroli disease cystic dilatation of intrahepatic bile ducts Choledochal cysts and Caroli disease do not allow biliary flow cause chronic or obstructive cholestasis and progressive liver disease In congenital hepatic fibrosis and polycystic kidney disease there is cystic formations at terminal interlobular bile ducts but cholestasis is not seen They don’t cause liver and biliary tract functional disturbances Turk Arch Ped 2008; 43: 40 5 Key words: Biliary tract cystic diseases liver renal

Autosomal recessive polycystic kidney disease and complex nephronophtisis medullary cystic disease

Reseach during the past decade has led to the discovery that defects in some proteins that localize to primary cilia or the basal body are the main contributors to renal cyst development. Autosomal recessive polycystic disease and nephronophthisis-medullary cystic kidney disease are named ciliopathies. The cilium is a microtubule-based organelle that is found on most mammalian cells. Cilia-mediated hypothesis has evolved into the concept of cystogenesis, cilia bend by fluid initiate a calcium influx that prevents cyst formation. Cilia might sense stimuli in the cell enviroment and control cell polarity and mitosis. A new set of pathogenic mechanisms in renal cystic disease defined new therapeutic targets, control of intracellular calcium, inhibition of cAMP and down regulation cannonical Wnt signaling.

Fetal Urinary Tract Malformations

Radiology| November 01 2004 Fetal Urinary Tract Malformations AAP Grand Rounds (2004) 12 (5): 55–56. https://doi.org/10.1542/gr.12-5-55-a Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Fetal Urinary Tract Malformations. AAP Grand Rounds November 2004; 12 (5): 55–56. https://doi.org/10.1542/gr.12-5-55-a Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: congenital malformation of the urinary system, fetus Source: Cassart M, Massez A, Metens T, et al. Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR Am J Roentgenol. 2004;182:689–695. Urinary tract malformations of the fetus, detected by obstetric sonography, occur in 0.1% to 1% of all pregnancies. Uropathies correspond to 30–50% of all structural anomalies found at birth.1–,3 Recent development of fast sequence magnetic resonance imaging (MRI) has extended the use of MRI to antenatal diagnosis as an efficient technique to evaluate equivocal fetal sonographic findings, particularly neurologic anomalies. A pilot study was undertaken by investigators from Erasme University Hospital and University Children’s Hospital, Brussels, Belgium, to determine the potential contribution of adding MRI to sonography for the imaging diagnosis of fetal urinary tract anomalies of third trimester fetuses. All cases of fetuses with positive sonographic findings were discussed at a multidisciplinary conference, with MRI performed when sonographic findings suggested bilateral urinary tract anomalies but failed to provide a definite diagnosis. In 11 of 16 consecutive fetuses age 27–37 weeks with bilateral urinary tract anomalies, MRI findings were concordant with sonography and provided a diagnosis, which was subsequently confirmed by postnatal workup or postmortem examination. Diagnoses included posterior urethral valve, reflux, ureteropelvic junction obstruction, renal vein thrombosis, multicystic dysplastic kidney, megacystis microcolon, autosomal recessive polycystic disease, and hypoplastic kidney. MRI modified the sonographic diagnoses in 5 fetuses and narrowed the differential diagnosis in 1. This study indicates that in third trimester fetuses, MRI may help to characterize bilateral urinary tract anomalies when sonography is inconclusive. In selected cases, MRI may establish a more precise diagnosis and affect the decision to continue or terminate a pregnancy. Due to widespread application of third trimester ultrasonography, increasing numbers of urinary tract anomalies are being identified. Most anomalies are clearly identified,2,4 but in complex cases, MRI may provide a more detailed diagnosis. MRI is a more expensive examination than sonography and, like ultrasound, does not involve ionizing radiation to the patient. At this point, it is difficult to provide guidance about the appropriateness of MRI in various clinical circumstances. The approach of these authors in enlisting a multidisciplinary team, including pediatric surgeons, pediatricians, and radiologists, seems prudent when in utero ultrasound shows an identified bilateral renal abnormality. You do not currently have access to this content.

Cystic Kidney Disease Presenting in Infancy

AIM: The clinical, histological and imaging findings of 12 children with ultrasound features of severe renal cystic disease presenting in the first year of life were reviewed.METHODS AND RESULTS: Two children had cystic dysplasia and four had autosomal dominant polycystic disease. Two had a malformation syndrome, one a variant of Meckel syndrome and the other Bardet Biedl syndrome. One had autosomal recessive polycystic disease and in three there was no final diagnosis. Intravenous urography gave non-specific information. In six cases clinical findings combined with imaging established a diagnosis. Diagnosis was established by biopsy in two and gave supportive evidence in one. Outlook for renal function is variable. One child has had a transplant and one is on dialysis awaiting a transplant. Three have a degree of renal failure and one has died. Six have normal renal function. Renal cystic disease is the common pathway for a heterogeneous group of disorders as shown in these children.CONCLUSION: It is emphasized that a specific diagnosis could not be made from the renal sonographic appearances alone, nor could any prognostic implications for renal function be made. Contrast retention on intravenous urography was also insufficiently specific to be of value. Ultrasound of the parents was the most useful imaging procedure and should be done in all cases.Saunders, A. J. S., (1999) Clinical Radiology54 , 370–376.