Castaldo Giuseppe, Tomaiuolo Rossella, Vanacore Borghina, Ferrara Pietro, DEL Vecchio Stefania, Carnovale Vincenzo, Abete Pasquale, Rengo Franco, Salvatore Francesco
Università del Molise Facoltà di SS MM FF NN Via Mazzini 86170 Isernia Italia.
J Cyst Fibros. 2006 Aug;5(3):193-5. doi: 10.1016/j.jcf.2005.12.001. Epub 2006 Feb 14.
We report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary expression and pancreatic insufficiency. The sweat test was altered in all three siblings, and all had intestinal occlusion in young age. The whole scanning of CFTR revealed the rare F508del/D614G genotype. The discordance of clinical expression within the same family reinforces the putative role of modifier genes of CF phenotype.
我们报告了一个非典型囊性纤维化（CF）的例子，即一个家庭中有三个兄弟姐妹受到晚期诊断的轻度CF影响，并且表现出不一致的肺部和胰腺表型。1号兄弟姐妹（男性）表现出严重的肺部受累和胰腺功能正常；2号兄弟姐妹（女性）表现出轻度肺部疾病且胰腺功能正常；3号兄弟姐妹（男性）有非常轻微的肺部表现和胰腺功能不全。所有三个兄弟姐妹的汗液试验均异常，且均在幼年时出现肠梗阻。CFTR的全扫描显示出罕见的F508del/D614G基因型。同一家庭中临床表型的不一致强化了CF表型修饰基因的假定作用。
