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Autosomal Recessive Polycystic Kidney Disease

Synonyms: Infantile Polycystic Kidney Disease

Definition

Rare autosomal recessive disease affecting both liver and kidneys.

Clinical Features

  • Rare: estimated incidence 1/20,000 live births
  • Hereditary
  • Liver and both kidneys invariably affected
  • Presentation:
    • depends on severity, which varies
    • in the neonate, renal symptoms usually predominate
      • large abdominal mass at birth
      • may have the ‘Potter’ phenotype with characteristic facies secondary to oligohydramnios, joint deformities, and pulmonary hypoplasia
    • later in life, liver disease, hepatosplenomegaly, esophageal varices
    • occasionally liver cysts
  • Patients who survive the perinatal period usually develop:
    • renal failure
    • hypertension
    • portal hypertension

Gross Pathology

  • Kidneys:
    • markedly enlarged bilaterally but retain their reniform configuration
  • Cysts:
    • tend to be linear
    • radiate from the medulla to the outer cortex
    • develop in the collecting ducts, which expand to a large size due to fluid accumulation within the cyst cavity
  • Liver:
    • congenital hepatic fibrosis
    • variable degree of biliary dysgenesis and bile duct ectasia1
    • may be hepatic portal hypertension with hepatosplenomegaly and esophageal varices

Histopathology

  • Cysts:
    • dilated collecting duct tubular structures
    • lined by cuboidal or flattened epithelium
  • Intervening tissue may contain uninvolved nephrons (depends on severity)

Differential Diagnosis

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  • Cysts in viscera other the kidneys and liver are rare and their presence may suggest a different disease

Genetics

  • Genetic defect localized to the short arm of chromosome 62–4

References

1 Bernstein J. Hepatic and renal involvement in malformation syndromes. Mt Sinai J Med. 1986;53:421–428.

2 Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, et al. The severe perinatal form of autosomal recessive polycystic kidney disease (ARPKD) maps to chromosome 6p21.1–p12: implications for genetic counseling. Am J Hum Genet. 1995;56:1101–1107.

3 Mücher G, Becker J, Knapp M, Buettner R, Moser M, Rudnik-Schöneborn S, et al. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12. Genomics. 1998;48:40–45.

4 Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kääriäinen H, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429–432.

5 Roy S, Dillon M, Trompeter R, Barratt T. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol. 1997;11:302–306.

6 Zerres K, Rudnik-Schöneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Acta Paediatr. 1996;85:437–445.

Last updated: 5 Apr 2006

Autosomal Recessive Polycystic Kidney Disease

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