autosomal recessive polycystic kidney disease
Summary
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder caused by mutations in the PKHD1 gene, characterized by bilateral enlarged cystic kidneys and congenital hepatic fibrosis. It typically presents in infancy with severe oligohydramnios, pulmonary hypoplasia, and progressive kidney dysfunction.
Detail
ARPKD is caused by mutations in the PKHD1 gene encoding fibrocystin/polyductin, a protein involved in ciliary function and cell signaling. Unlike autosomal dominant PKD, ARPKD manifests early in life with massive bilateral kidney enlargement due to fusiform dilatation of collecting ducts. The enlarged kidneys can cause in utero oligohydramnios leading to Potter sequence (pulmonary hypoplasia, growth restriction, characteristic facies). Neonates may present with respiratory distress requiring immediate ventilatory support. The disease invariably includes congenital hepatic fibrosis with portal hypertension, which can lead to esophageal varices, splenomegaly, and hypersplenism. Kidney function progressively declines, with many patients requiring dialysis or transplantation by adolescence. Hypertension is common and often severe. Diagnosis is confirmed through genetic testing, though imaging showing characteristic bilateral cystic kidney enlargement in appropriate clinical context is highly suggestive. Management focuses on supportive care, blood pressure control, treatment of complications, and eventual renal replacement therapy.
Sources
- Harrison's Principles of Internal Medicine
- Robbins Basic Pathology
- Nelson Textbook of Pediatrics
- KDIGO Clinical Practice Guidelines
- American Journal of Kidney Diseases
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