BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic inherited kidney disease, affecting an estimated 600 000 individuals in Europe. The disease is characterized by age-dependent development of a multiple cysts in the kidneys, ultimately leading to end-stage renal failure and the need of renal replacement therapy in the majority of patients, typically by ...

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disease and common renal disease. Mutations of PKD genes are responsible for this disease. We analyzed a large Chinese family with ADPKD using Sanger sequencing to identify the mutation responsible for this disease. The family comprised 27 individuals including 10 ADPKD patients. These ADPKD patients had severe renal disease a...

Although cases of autosomal dominant polycystic kidney disease (ADPKD) associated with abdominal aortic aneurysm have been repeatedly reported in the literature, no systematic studies of the aortas of these patients have been performed. In the study presented here, a sonographic study of the abdominal aorta in 139 ADPKD patients and in 149 healthy family members was carried out. For both groups...

BACKGROUND AND OBJECTIVES ADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957). Even if ADPKD is not a common condition, the correct prevalence of ADPKD in the general population is uncertain, with a wide range of estimations reported by different a...

Aim To build upon previous outdated studies by comprehensively assessing the direct healthcare burden of autosomal dominant polycystic kidney disease (ADPKD).Materials and methods Patients with ≥2 diagnoses for ADPKD (ADPKD cohort) were identified in US fee-for-use IBM Truven Health Analytics MarketScan Commercial Claims Encounters Medicare Supplemental databases (01 January 2015–31 December 20...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable disease. ADPKD leads to cysts, enlargement and end-stage renal mainly caused by variants in PKD1 PKD2, with truncating causing severe phenotype. This study aimed characterize Danish patients referred for screening of genes related cystic 147 families were analysed PKD1, PKD2 GANAB using next generation sequencing ...

Polycystic kidney disease (PKD) is the most common hereditary disorder of kidneys. In adults, PKD1 gene mutation almost always signifies its subtype, autosomal dominant polycystic (ADPKD), or adult disease. ADPKD a multisystemic giving rise to renal and extra-renal manifestations. The shutdown feared complication while development intracranial aneurysms considered lethal feature. This can be at...

Intracranial aneurysm rupture is the most serious and potentially lethal extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD). Almost all cases of ruptured intracranial aneurysm occur in adult patients with a median age of rupture of 40 years. We report the occurrence of sudden death in a newborn infant born to a mother with typical ADPKD in the first week of life. ...

Correspondence: Roser Torra Enfermedades Renales Hereditarias Servicio de Nefrología Fundació Puigvert Barcelona [email protected] INTRODUCTION Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of ESRD in adults. There is currently no specific treatment for ADPKD, but great progress has been made in recent years in understanding of the cystogenesis process and the...

Cystogenesis associated with autosomal dominant polycystic kidney disease (ADPKD) is characterized by perturbations in the polarized phenotype and function of cyst-lining epithelial cells. The polycystins, the protein products of the genes mutated in the majority of ADPKD cases, have been described recently, but the pathological mechanism by which causal mutations result in the mislocalization ...