Polycystic kidney disease (PKD) is the most common genetic cause of renal failure in humans. Several proteins that are encoded by genes associated with PKD have recently been identified in primary cilia in renal tubular epithelia. These findings have suggested that abnormalities in cilia formation and function may play a role in the pathogenesis of PKD. To directly determine whether cilia are e...

A 5-year-old girl presented with a history of global developmental delay and recurrent focal seizures since 2 years of age. Her parents had also noticed a progressive abdominal distension for the last 1 year. Physical examination revealed facial angiofibroma/adenoma sebaceum (Figure 1), blood pressure of 110/ 80 mmHg (between the 95th and 99th percentiles for age sex and height percentile) and ...

Abstract Background and Aims Association between complete Situs inversus autosomal polycystic kidney disease is rare. The Medline search revealed only three such cases. We report the fourth one. Recent studies have ciliary dysfunction as a cause of both conditions. Method we case association familial hereditary with situs inversus. Results A 32-year-old patient history stroke was admitted to Ne...

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...

BACKGROUND The aim of this study was to determine whether the incidence and survival of patients with end-stage kidney disease (ESKD) due to polycystic kidney disease (PKD) has changed in Australia and New Zealand. METHODS Data for all PKD patients who developed ESKD and commenced renal replacement therapy (RRT) was assessed using the Australia and New Zealand Dialysis and Transplant Registry...

Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus. This is an unstable allele that undergoes somatic inactivation by intragenic homologous recombination to produce a true null allele. Mice heterozygous and homozygous for this mutation, as well as Pkd+/- mice, develop polyc...

Aquaporin-11 (AQP11), a new member of the aquaporin family, is localized in the endoplasmic reticulum (ER). Aqp11(-/-) mice neonatally suffer from polycystic kidneys derived from the proximal tubule. Its onset is proceeded by the vacuolization of ER. However, the mechanism for the formation of vacuoles and cysts remains to be clarified. Here, we show that Aqp11(-/-) mice and polycystic kidney d...

Autosomal-dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently leads to renal failure. Mutations in polycystin-1 (PC1) underlie most cases of ADPKD, but the function of PC1 has remained poorly understood. No preventive treatment for this disease is available. Here, we show that the cytoplasmic tail of PC1 interacts with tuberin, and the mTOR pathway is inappro...

There are two known forms of hereditary polycystic kidney disease (PKD) in humans. Although both forms initiate early in life, autosomal recessive PKD is rapidly progressive to kidney failure shortly after birth whereas autosomal dominant PKD is slowly progressive, taking many years to end stage. Research in this field has been limited by the availability of suitable animal models of PKD. Recen...

I t has been suggested that epithelial cells in polycystic kidney disease (PKD) exist in a developmentally immature state ( 1 ,2) as manifested by morphologic. functional, and molecular abnormalities. During normal development, renal messenger RNA (mRNA) levels for epidermal growth factor Increase (3), whereas those for the sulfated glycoprotein SGP-2 decrease ( 1 ). This process does not occur...