| [ Summary ] |
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited malformation complex, characterized by varying degrees of tubular malformation and ectasia in the kid ney and liver. The incidence estimate is approximately 1 to 2 per 10,000 live births. Heterozygotes are unaffected and ARPKD is generally considered to have an equal sex distribution, indicating its autosomal recessive mode of inheritance. In the kidneys, the disorder is manifested as renal collecting ductectasia. The ducts are dilated and elongated, with 10%-90% being in the bilateral kidney. When a large number of ducts are involved, the kidneys increase in size and lose function. Treatments for hypertension, diminished urinary concentrating ability and renal insufficiency may be necessary. In the liver, the bileducts often increase in number and dilate, with portal tract enlargement and fibrosis, referred to as congenital hepatic fibrosis (CHF). Troublesome complications with CHF include portal hypertension with splenomegaly, varices, and gestroesophageal hemorrhaging. The on set of renal and hepatic abnormalities is different in perinatal to juvenile cases. Generally, the number of renal and hepatic disorders is inversely proportional in individual patients. Although specific treatments for preventing the ARPKD phenotype have not yet been discovered, recent findings on the pathophysiology of the disease will help to develop new therapies for ARPKD. |