Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2

• Published in: Digestive diseases and sciences Vol. 44; no. 2; pp. 385 - 388
• Main Authors: IGLESIAS, D. M, PALMITANO, J. A, ARRIZURIETA, E, KORNBLIHTT, A. R, HERRERA, M, BERNATH, V, MARTIN, R. S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.02.1999; Springer Nature B.V
• Subjects: Adult; Aged; Argentina; Belgium - ethnology; Biological and medical sciences; Cysts - genetics; Female; Gastroenterology. Liver. Pancreas. Abdomen; Genes, Dominant; Genetic Linkage; Humans; Liver Diseases - genetics; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Pedigree; Polycystic Kidney Diseases - genetics; Spain - ethnology; Tropical medicine; Tumors; Belgium; Argentina; Spain; Kidney disease; Human; Urinary system disease; Polycystic kidney; Polycystic liver; Hepatic disease; Chromosome; Genetic determinism; Genetic disease; Case study; Concomitant disease; Cyst; Predisposition; Digestive diseases; Benign neoplasm; Mutation; Localization; Non existence
• ISSN: 0163-2116; 1573-2568
• DOI: 10.1023/A:1026623005401

Autosomal dominant polycystic liver disease occurs commonly in association with autosomal dominant polycystic kidney disease, types 1 and 2. It may also exist as a separate entity, genetically distinct from autosomal dominant polycystic kidney disease types 1 and 2, as has been recently established to exist in a Belgian family. We report here a large Argentinian family of Spanish-Belgian ancestry with autosomal dominant polycystic liver disease, where proximal and distal markers for both polycystic kidney disease 1 and 2 failed to demonstrate genetic linkage. The data support the notion that polycystic liver disease and autosomal dominant polycystic kidney disease may have separate chromosomal loci.