The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation / Castaldo, G., Rippa, E., Salvatore, D., Sibillo, R., Raia, V., De Ritis, G., Salvatore, F.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 69:2(1997), pp. 155-158. [10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O]
Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.
CASTALDO, GIUSEPPE;SALVATORE D.;RAIA, VALERIA;
1997
Abstract
The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
