Peces R, Drenth JP, Morsche RHT, González P, Peces C. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. World J Gastroenterol 2005; 11(48): 7690-7693 [PMID: 16437702 DOI: 10.3748/wjg.v11.i48.7690]
Corresponding Author of This Article
Dr Ramón Peces, Servicio de Nefrología, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. cpeces@varnet.com
Article-Type of This Article
Case Report
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World J Gastroenterol. Dec 28, 2005; 11(48): 7690-7693 Published online Dec 28, 2005. doi: 10.3748/wjg.v11.i48.7690
Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation
Ramón Peces, Joost PH Drenth, Rene HM te Morsche, Pedro González, Carlos Peces
Ramón Peces, Section of Nephrology, Hospital General La Mancha-Centro, Alcázar de San Juan, Ciudad Real and Service of Nephrology, Hospital Universitario La Paz, Madrid, Spain
Joost PH Drenth, Rene HM te Morsche, Department of Medicine, Division of Gastroenterology and Hepatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Pedro González, Section of Digestive Hospital General La Mancha-Centro, Alcázar de San Juan, Ciudad Real, Spain
Carlos Peces, Computer Science Superior School, Castilla La Mancha University and Technology Area of the Castilla La Mancha Health Service (SESCAM), Ciudad Real, Spain
Author contributions: All authors contributed equally to the work.
Supported by a grant from the Instituto de Ciencias de la Salud, Consejería de Sanidad de Castilla La Mancha (Grant EQ03016). Joost PH Drenth is a recipient of a NOW-VIDI grant
Correspondence to: Dr Ramón Peces, Servicio de Nefrología, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. cpeces@varnet.com
Telephone: +34-917277224 Fax: +34-917277133
Received: December 15, 2004 Revised: June 10, 2005 Accepted: June 16, 2005 Published online: December 28, 2005
Abstract
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.
