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ALL / Nephrology
ARPKD
ARPKD
Autosomal recessive polycystic kidney disease (ARPKD) is much less common than autosomal dominant disease (ADPKD). It is due to a defect in a gene located on chromosome 6 which encodes fibrocystin, a protein important for normal renal tubule development.Diagnosis may be made on prenatal ultrasound or in early infancy with abdominal masses and renal failure. Newborns may also have features consistent with Potter's syndrome secondary to oligohydramnios. End-stage renal failure develops in childhood. Patients also typically have liver involvement, for example portal and interlobular fibrosis.
Renal biopsy typically shows multiple cylindrical lesions at right angles to the cortical surface.
+PassMedicine Notes
Autosomal recessive polycystic kidney disease (ARPKD) is much less common than autosomal dominant disease (ADPKD). It is due to a defect in a gene located on chromosome 6 which encodes fibrocystin, a protein important for normal renal tubule development.
Diagnosis may be made on prenatal ultrasound or in early infancy with abdominal masses and renal failure. Newborns may also have features consistent with Potter's syndrome secondary to oligohydramnios. End-stage renal failure develops in childhood. Patients also typically have liver involvement, for example portal and interlobular fibrosis.
Renal biopsy typically shows multiple cylindrical lesions at right angles to the cortical surface.
