Chadwick Christina B, Megison Stephen, Troendle David M, Sathe Meghana
Pediatric Gastroenterology, UT Southwestern, Dallas, TX, United States.
Pediatric Surgery, UT Southwestern, Dallas, TX, United States.
J Pediatr Surg Case Rep. 2020 Feb;53. doi: 10.1016/j.epsc.2019.101381. Epub 2019 Dec 28.
Individuals with cystic fibrosis (CF) who possess milder and less common mutations can have preservation of exocrine pancreatic function (EPF) but are at risk for recurrent pancreatitis, chronic pancreatic damage, and loss of EPF. They may develop sequelae secondary to pancreatic disease including malabsorption, chronic pain, and disordered eating. In severe cases, endoscopic and surgical intervention is necessary. With advancement of CFTR modulators, individuals with more unique mutations are eligible for modulator therapy, leading to preservation of pancreatic function and elimination of further pancreatitis and co-morbidities. Our case illustrates an adolescent female with CF and chronic pancreatitis with associated malabsorption, loss of EPF, chronic pain and nausea. She underwent a Puestow procedure and subsequent initiation of ivacaftor/tezacaftor, which dramatically improved her medical course and quality of life. With earlier intervention, including modulator therapy, patients with CF and pancreatic disease can potentially preserve EPF and obtain an improved quality of life.
患有囊性纤维化(CF)且携带较温和及较罕见突变的个体,其外分泌胰腺功能(EPF)可能得以保留,但有复发性胰腺炎、慢性胰腺损伤及EPF丧失的风险。他们可能会出现继发于胰腺疾病的后遗症,包括吸收不良、慢性疼痛和饮食紊乱。在严重情况下,内镜和手术干预是必要的。随着CFTR调节剂的发展,具有更独特突变的个体有资格接受调节剂治疗,从而保留胰腺功能并消除进一步的胰腺炎及合并症。我们的病例展示了一名患有CF和慢性胰腺炎的青春期女性,伴有相关的吸收不良、EPF丧失、慢性疼痛和恶心。她接受了普斯托手术,随后开始使用依伐卡托/替扎卡托,这显著改善了她的病程和生活质量。通过早期干预,包括调节剂治疗,患有CF和胰腺疾病的患者有可能保留EPF并获得改善的生活质量。