Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

Giuseppe Castaldo, Emilia Rippa, Donatello Salvatore, Raffaella Sibillo, Valeria Raia, Giorgio De Ritis, Francesco Salvatore

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)155-158
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume69
Issue number2
DOIs
Publication statusPublished - Mar 17 1997

Keywords

  • cystic fibrosis
  • G542X mutation
  • genotype/phenotype correlation
  • liver

ASJC Scopus subject areas

  • Genetics(clinical)

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