Castaldo G, Rippa E, Salvatore D, Sibillo R, Raia V, de Ritis G, Salvatore F
Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina e Chirurgia, Università di Napoli Federico II, Italy.
Am J Med Genet. 1997 Mar 17;69(2):155-8. doi: 10.1002/(sici)1096-8628(19970317)69:2<155::aid-ajmg7>3.0.co;2-o.
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.
本文描述了一名携带G542X突变纯合子的囊性纤维化（CF）患者的临床和实验室检查结果。这是迄今为止所描述的7例G542X纯合子CF患者中的首例，该患者表现出严重的肝脏受累、伴有胰腺功能不全以及中度的肺部疾病表现，实验室和影像学数据均证实了这一点。该病例进一步证明，囊性纤维化的基因型/表型相关性比之前所怀疑的更为复杂。
