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infantile polycystic kidney disease (autosomal recessive)

Pathology: 1) distal tubule & collecting duct cysts 2) intraheptic bile duct abnormalities 3) oligohydramnios secondary to a poor urine output 4) severe pulmonary hypoplasia & secondary respiratory insufficiency result in up to 50% neonatal mortality 5) in subset that survives the perinatal period, morbidity & mortality are mainly related to severe systemic hypertension, renal insufficiency, & portal hypertension due to portal-tract fibrosis Genetics: - autosomal recessive - defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease Clinical manifestations: - renal failure in a newborn Radiology: - ultrasound, enlarged & echogenic kidneys

Interactions

disease interactions

General

genetic disease of the kidney polycystic kidney disease

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324
  2. UniProt :accession Q8TCZ9
  3. Medical Knowledge Self Assessment Program (MKSAP) 16, American College of Physicians, Philadelphia 2012