Ontology highlight
ABSTRACT:
SUBMITTER: Simms RJ
PROVIDER: S-EPMC3108105 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Simms Roslyn J RJ Hynes Ann Marie AM Eley Lorraine L Sayer John A JA
International journal of nephrology 20110515
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10-15% of patient ...[more]