Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human tissues by using polyclonal Abs and mAbs re...

Autosomal recessive polycystic kidney disease (ARPKD) is a developmental disorder that mainly affects the kidneys and the biliary tract. Affected patients often have massively enlarged cystic kidneys as well as congenital hepatic fibrosis (CHF) characterized by dilated bile ducts and associated peribiliary fibrosis. This review will examine what is known about ARPKD-associated liver disease and...

We report a case of multiple gastric carcinomas associated with Potter type III cystic disease of the liver, mesenterium and kidney. A 65-year-old man with chronic renal failure due to polycystic kidneys and under hemodialysis treatment 3 times a week for 2 years was admitted to our hospital because of anemia. He stated that his sister had suffered from polycystic kidney disease. Gastrointestin...

A 65-year-old lady developed fever and right-sided abdominal pain. Her medical history included renal transplantation for end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD). Infection of a cyst within her native right kidney or liver was suspected. Computed tomography of her abdomen and pelvis showed both native kidneys to be grossly enlarged and po...

cAMP plays a major role in cystogenesis. Recent in vitro studies suggested that cAMP stimulates B-Raf/ERK activation and proliferation of cyst-derived cells in a Ca(2+) inhibitable, Ras-dependent manner. OPC-31260, a vasopressin V2 receptor (VPV2) antagonist, was shown to lower renal cAMP and inhibit renal disease development and progression in models orthologous to human cystic diseases. Here ...

BACKGROUND There are few studies on the genotypes and phenotypes of autosomal recessive polycystic kidney disease in Chinese patients. METHODS PKHD1 mutations in three children were detected with PCR and direct sequencing, and their clinical data were retrospectively reviewed. RESULTS All of the children had bilateral enlarged polycystic kidneys, congenital hepatic fibrosis and intrahepatic...

Seventy-eight patients were treated for polycystic disease of the kidneys. An analysis of the interval between the onset of symptoms and end-stage renal failure made it possible to give and accurate prognosis in individual cases. Pregnancy and urinary infection did not appear to accelerate deterioration of renal function, but Rovsing' operation precipitated renal failure in some cases. Forty-tw...

Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This incompatible with life. We report case diagnosed on fetal ultrasound at gestational age of 22 SA 6 days, presenting the clinical triad syndrome. A medical termination pregnancy was indicated. From this rare case, through review literature, we will discuss...