Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.
Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations. Recently, mutations in two causative genes for ADPLD, independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.
Peces
Ramón
R
Servicio de Nefrologia, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. cpeces@varnet.com
Drenth
Joost P H
JP
Te Morsche
Rene H M
RH
González
Pedro
P
Peces
Carlos
C
D000328:Adult; D002135:Calcium-Binding Proteins; D005260:Female; D005959:Glucosidases; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008107:Liver Diseases / Q000235:genetics*; D020125:Mutation, Missense; D010750:Phosphoproteins / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000235:genetics
D002135:Calcium-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D010750:Phosphoproteins; D005959:Glucosidases; C070368:PRKCSH protein, human