title: Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
abstract: BACKGROUND
  Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood.
  
  
  METHODS
  A boy was reported with the co-occurrence of ARPKD and PCLD. He presented at the age of 16 days with pyelonephritis and urosepsis. Subsequent investigations showed enlarged kidneys and hyperechogenic renal medulla and liver parenchyma. Genetic analysis revealed compound heterozygous mutations in the PKHD1 gene (p.Arg496X and p.Ser1862Leu). After his mother was diagnosed with PCLD, the finding of a liver cyst on ultrasound prompted analysis of the PRKCSH gene, revealing a missense mutation (p.Arg139His). At the most recent follow-up at 13 years of age, the patient's course and clinical examination was uneventful with normal renal and liver function without evidence of portal hypertension.
  
  
  CONCLUSIONS
  The patient with ARPKD and PCLD has so far demonstrated a benign clinical outcome, consistent with the great phenotypic variability of ARPKD and, apart from the liver cyst, asymptomatic manifestation of PCLD in childhood. However, close long-term follow-up is mandatory.
authors.affiliation: Children's Hospital Lucerne, 6000, Lucerne, Switzerland.
authors.forename: Andrea
authors.initials: A
authors.lastname: Zingg-Schenk
authors.forename: Jürg
authors.initials: J
authors.lastname: Caduff
authors.forename: Silvia
authors.initials: S
authors.lastname: Azzarello-Burri
authors.forename: Carsten
authors.initials: C
authors.lastname: Bergmann
authors.forename: Joost P H
authors.initials: JP
authors.lastname: Drenth
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Neuhaus
mesh_terms: D002135:Calcium-Binding Proteins; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000150:complications* / Q000235:genetics*; D005959:Glucosidases / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008107:Liver Diseases / Q000150:complications* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017044:Polycystic Kidney, Autosomal Recessive / Q000150:complications* / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: D002135:Calcium-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface; D005959:Glucosidases; C070368:PRKCSH protein, human