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Deletion ΔF508 and clinical expression of cystic fibrosis‐related liver disease
Author(s) -
Arce M.,
O'Brien S.,
Hegarty J.,
O'Mahoney S. M.,
Cashman S. M.,
Martinez A.,
Delgado M.,
FitzGerald M. X.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03254.x
Subject(s) - cystic fibrosis , liver disease , heterozygote advantage , disease , medicine , δf508 , liver function tests , liver function , pulmonary function testing , pancreatic disease , respiratory disease , pathology , gastroenterology , cystic fibrosis transmembrane conductance regulator , biology , genotype , genetics , lung , gene , pancreas
A study of liver function in 108 adult cystic fibrosis patients showed that 20 had established liver disease, and that these had significantly better pulmonary function than the subgroup without liver disease. The relative risk of liver disease for homozygotes vs heterozygotes was 2:1 in our series. Four of the liver patients had a sibling with CF, but three of the sibships were discordant for liver disease. Environmental or genetic factors other than the deletion Delta F508 may influence the development of cystic fibrosis‐related liver disease.