Hjelm Michelle, Shaikhkhalil Ala K
Division of Pulmonary Medicine.
Division of Gastroenterology, Hepatology, and Nutrition, Nationwide Children's Hospital, Columbus, OH.
J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):257-260. doi: 10.1097/MPG.0000000000002736.
Cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators have revolutionized care for individuals with cystic fibrosis (CF) with positive effects on the gastrointestinal (GI) tract. There is emerging evidence linking CFTR dysfunction to celiac disease (CD). We present 3 cases of patients with CF, genotype F508del/G551D, treated with CFTR modulator, ivacaftor, and diagnosed with CD. These patients tested for CD because they had persistent GI symptoms that had partially improved with ivacaftor. This case series highlights the importance of a better understanding of how CFTR modulators impact the GI tract, their possible link to CD, and the importance of considering CD when evaluating GI symptoms in individuals with CF.
囊性纤维化跨膜传导调节因子(CFTR)蛋白调节剂彻底改变了对囊性纤维化(CF)患者的治疗方式,对胃肠道(GI)产生了积极影响。越来越多的证据表明CFTR功能障碍与乳糜泻(CD)有关。我们报告了3例CF基因型为F508del/G551D的患者,他们接受了CFTR调节剂依伐卡托治疗,并被诊断为CD。这些患者因持续存在的胃肠道症状而接受CD检测,这些症状在使用依伐卡托后有部分改善。该病例系列强调了更好地理解CFTR调节剂如何影响胃肠道、它们与CD的可能联系以及在评估CF患者的胃肠道症状时考虑CD的重要性。