Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals
and is the fourth most common cause for renal replacement therapy worldwide. There have …

Abstract Recently, the European Medicines Agency approved the use of the vasopressin V2
receptor antagonist tolvaptan to slow the progression of cyst development and renal …

Haemolytic uraemic syndrome (HUS) is a clinical entity defined as the triad of nonimmune
haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying …

Individuals who are at risk for autosomal dominant polycystic kidney disease are often
screened by ultrasound using diagnostic criteria derived from individuals with mutations in …

Background Although autosomal dominant polycystic kidney disease type 2 (PKD2) is
known to have a milder clinical phenotype than PKD1, neither disorder has been compared …

Background Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency,
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …

Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD
characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis. The …

Alport syndrome inevitably leads to end-stage renal disease and there are no therapies
known to improve outcome. Here we determined whether angiotensin-converting enzyme …

Results We identified causing mutations in 34%(37/110) of SRNS patients, representing
67%(16/24) familial and 25%(21/86) sporadic cases. Mutations were detected in 100% of …

[EN] Haemolytic uraemic syndrome (HUS) is a clinical entitydefined as the triad of
nonimmune haemolytic anaemia, thrombocytopenia, and acute renal failure, in which …