congenital hepatic fibrosis (chf) is a rare disease that affects both the liver and kidneys.  congenital hepatic fibrosis (chf) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...

Mutations in PKD1, which encodes polycystin-1 (PC1), contribute to >85% of cases of autosomal dominant polycystic kidney disease (ADPKD). The planar cell polarity (PCP) pathway is necessary for the oriented cell division and convergent extension that establishes and maintains the structure of kidney tubules, but the role of this pathway in the pathophysiology of ADPKD is incompletely understood...

In autosomal recessive polycystic kidney disease (ARPKD), progressive enlargement of fluid-filled cysts is due to aberrant proliferation of tubule epithelial cells and transepithelial fluid secretion leading to extensive nephron loss and interstitial fibrosis. Congenital hepatic fibrosis associated with biliary cysts/dilatations is the most common extrarenal manifestation in ARPKD and can lead ...

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality. All typical forms of ARPKD are caused by mutatio...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common single gene disorder resulting in renal failure. It is generally an adult onset disease, but rarely, cases of severe childhood polycystic disease arise in ADPKD families. The clear clinical anticipation in these pedigrees has led to the suggestion that the mutation may be an unstable trinucleotide repeat. We have now identi...

Polycystic kidney disease (PKD) is an inherited commonly reported in cats, but rarely big cats. It associated with formation of cysts the kidneys. This article describes clinical, pathology and immunohistochemistry findings PKD a Siberian hybrid tiger. A 16-year-old female captive tiger showed inappetence, weight loss, polyuria, polydipsia. Within six months, its body hydration status were prog...

We describe four prenatal diagnoses in a family with autosomal dominant polycystic kidney disease. Two pregnancies were terminated following the detection of enlarged echogenic fetal kidneys with cysts. Histopathological examination confirmed the diagnosis of polycystic kidney disease. Linkage to PKD1 was obtained by the analysis of DNA from relatives in three generations and from paraffin bloc...

CONTEXT Dominantly autosomal polycystic disease is characterized by multiple bilateral and non-functional cysts, which lead to progressive kidney failure. OBJECTIVE Our objective was to report on a case of hand-assisted bilateral nephrectomy in a 28-year-old female patient with adult polycystic disease and recurring pyelonephritis in a kidney transplant program. CASE REPORT A hand-assisted ...