ABSTRACT Background: Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKDI on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Methods: Here we report the first molecular genetic study of ADPKD and the existence oflocus heterogeneity for ADPKD in the Iranian populatio...

One of the most striking features in autosomal dominant polycystic kidney disease (ADPKD) is the difference at onset age of end-stage renal disease (ESRD). Modifier genes may play a role in this phenotypic variability. The mutated nitric oxide synthase 3 gene (NOS3), have a modifier effect on the severity of ADPKD by impairment of NOS3 activity and decreasing of renal vascular nitric oxide prod...

autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder associated with multiple cyst formation in the different organs. development of pancreatic cyst in adpkd is often asymptomatic and is associated with no complication. a 38‑year‑old man with adpkd was presented with six episodes of acute pancreatitis and two episodes of cholangitis in a period of 12 months. various ima...

one of the most striking features in autosomal dominant polycystic kidney disease (adpkd) is the difference at onset age of end-stage renal disease (esrd). modifier genes may play a role in this phenotypic variability. the mutated nitric oxide synthase 3 gene (nos3), have a modifier effect on the severity of adpkd by impairment of nos3 activity and decreasing of renal vascular nitric oxide prod...

Autosomal dominant polycystic kidney disease (ADPKD) cyst enlargement is exacerbated by accumulation of fluid within the lumen of the cyst. Extracellular nucleotides and nucleosides stimulate fluid and chloride (Cl-) secretion across epithelia and are potent autocrine and paracrine agonists within tissues. This study tests the hypothesis that ATP may be released by ADPKD epithelial cells. Once ...

Background. In animal models, polycystic kidneys are susceptible to acute kidney injury (AKI). We examined the occurrence of AKI in a cohort of autosomal dominant polycystic kidney disease (ADPKD) and non-ADPKD patients with acute pneumonia. Design. All ADPKD patients admitted to Mayo Clinic Rochester for pneumonia from January 1990 to April 2010 were examined. Sixty-three patients had lobar in...

BACKGROUND Polycystin 1 and 2, the protein abnormalities associated with autosomal dominant polycystic kidney disease (ADPKD), are also found in airway cilia and smooth muscle cells. There is evidence of increased radiologic bronchiectasis associated with ADPKD, though the clinical and functional implications of this association are unknown. We hypothesized an increased prevalence of both radio...

Although cardiovascular complications are the most common cause of death in patients with autosomal-dominant polycystic kidney disease (ADPKD), the incidence and risk of aortic aneurysm and dissection (AAD) in ADPKD remains unclear due to limited data and insufficient cases. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to do a population-based cohort stud...

Polycystic liver disease is a well described manifestation of autosomal dominant polycystic kidney disease (ADPKD). Biliary tract complications are less well recognized. We report a 50-year single-center experience of 1007 patients, which raised a hypothesis that ADPKD is associated with biliary tract disease. We tested this hypothesis using all England Hospital Episode Statistics data (1998-20...