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Dig Dis Sci. 1999 Feb;44(2):385-8.

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

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  • 1Instituto de Investigaciones M├ędicas Alfredo Lanari, Universidad de Buenos Aires, Argentina.


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.

[PubMed - indexed for MEDLINE]
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