Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD)

Clin Nephrol. 2015 May;83(5):297-300. doi: 10.5414/CN108345.

Abstract

Background: Neonatal ascites is a rare entity, which is usually biliary, urinary, or chylous. Congenital hepatic fibrosis as part of the manifestations of autosomal recessive polycystic kidney disease (ARPKD) is usually a histological adjunct to the diagnosis of this mainly clinically renal entity in the neonatal period. Case-diagnosis: We describe a rare case of severe ascites in a newborn child complicating ARPKD, which was later confirmed by clinical, histological, and genetic studies.

Conclusion: ARPKD should be considered in differential diagnosis of neonatal ascites.

Publication types

  • Case Reports

MeSH terms

  • Ascites / diagnosis
  • Ascites / etiology*
  • Ascites / therapy
  • Biopsy
  • Child
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Diseases, Inborn
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant, Newborn
  • Liver Cirrhosis
  • Liver Diseases / complications
  • Liver Diseases / diagnosis
  • Liver Diseases / genetics
  • Liver Diseases / therapy
  • Mutation
  • Phenotype
  • Polycystic Kidney, Autosomal Recessive / complications*
  • Polycystic Kidney, Autosomal Recessive / diagnosis
  • Polycystic Kidney, Autosomal Recessive / genetics
  • Polycystic Kidney, Autosomal Recessive / therapy
  • Predictive Value of Tests
  • Receptors, Cell Surface / genetics
  • Risk Factors
  • Severity of Illness Index
  • Treatment Outcome

Substances

  • PKHD1 protein, human
  • Receptors, Cell Surface

Supplementary concepts

  • Hepatic Fibrosis, Congenital