[Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel].

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal disease. Kidneys and liver may be affected clinically but at a varying severity, ranging from a Potter-like syndrome, systemic hypertension and variable renal dysfunction to portal hypertension due to hepatic fibrosis. Most ARPKD cases are caused by mutations in the gene PKHD1. Specific mutations in patients from various ethnic...

Topics

• Ethnicity
• Humans
• Israel
• Mutation
• Phenotype
• Polycystic Kidney, Autosomal Recessive
• Prenatal Diagnosis