Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

2014-08-27 03:54:58 | BioPortfolio


This study will evaluate patients with autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis (CHF) and other related disorders (ciliopathies). People with ARPKD develop kidney cysts and eventually kidney failure, symptoms may include hypertension (high blood pressure), poor growth, and urinary infections. CHF is a specific type of liver disease associated with ARPKD. It involves fibrosis, or scarring, of the liver, which can lead to life-threatening complications, including internal bleeding of enlarged blood vessels called varices in the esophagus (food pipe). The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments.



Human disorders caused by defects of the cilia and/or centrosome (ciliopathies) are a group of distinct syndromes with overlapping features. Human ciliopathies include polycystic kidney diseases (PKD), nephronophthisis (NP), Joubert (JS) and related cerebello-oculo-renal syndromes (CORS), Bardet-Biedl (BBS), Meckel-Gruber (MGS), Oral-Facial-Digital (OFD), and Alstrom syndromes (AS). Autosomal recessive polycystic kidney disease (ARPKD), the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF) of the liver. JS is characterized by a distinctive cerebellar and brainstem malformation (molar tooth sign), developmental delays, episodic hyperpnea/apnea and atypical eye movements. Other features identified in JS/CORS patients include retinal dystrophy, renal disease, CHF, ocular colobomas, occipital encephalocele, and polydactyly. BBS is characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal dysfunction. AS is characterized by retinal dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, the insulin resistance syndrome, developmental delay and renal and hepatic disease. OFD-I is characterized by polycystic kidney disease, facial dysmorphism, and oral, digital and brain anomalies including cerebellar agenesis with or without Dandy-Walker malformation. Although at least a subset of the patients with JS/CORS, BBS, OFD, and AS are known to have significant kidney and liver involvement, the characteristics of kidney and liver disease in these syndromes are poorly defined mostly because of the limited data available only from retrospective reports.

In this protocol, we will clinically evaluate up to 300 children and adults with ARPKD/CHF and other rare ciliopathies with special emphasis on delineating the kidney and liver involvement. We will perform mutation analysis of the related genes when needed. Routine admissions will last 4-5 days and will occur approximately every 12 to 18 months. This protocol will provide longitudinal information regarding progression of renal and hepatic disease in a large cohort of patients, and will elucidate genotype-phenotype correlations. The protocol will also allow the investigators to acquire sufficient expertise in ARPKD to design therapeutic interventions in the future.

Study Design



Autosomal Recessive Polycystic Kidney Disease


National Institutes of Health Clinical Center, 9000 Rockville Pike
United States




National Institutes of Health Clinical Center (CC)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:54:58-0400

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Medical and Biotech [MESH] Definitions

A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.

Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.

Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.

An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.

A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES.

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