Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Pediatric Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Pediatr. 2021 Sep;180(9):2807-2813. doi: 10.1007/s00431-021-04011-4. Epub 2021 Mar 25.
Patients with cystic fibrosis (CF) have a higher incidence of celiac disease (CD) than the healthy population; however, the actual incidence of coexisting CF and CD is unclear. In this report, we aimed to evaluate the frequency of CD and CF coexistence and to assess the clinical findings of affected patients during follow-up. We conducted a retrospective review of patients with CF to reveal the frequency of CD and also investigated the clinical characteristics and clinical response to gluten-free diet in patients with CD. The incidence of CD in 515 patients with CF was 1.4%. The median age at the time of CF diagnosis was 2 months (1-6 months). CD was diagnosed in six patients with poor weight gain, fatty stools, and low z score for BMI and one patient with poor weight gain despite a high protein and calorie diet and pancreatic enzyme replacement. The median age of CD diagnosis was 8 years (2-12 years). Except for one patient who was recently diagnosed, the other six patients gained weight and their accompanying symptoms resolved after starting a gluten-free diet.Conclusion: CD should be investigated in patients with CF in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. What is Known: • CFTR dysfunction may be a risk factor for CD, due to increased intestinal permeability and intestinal inflammation, pancreatic exocrine insufficiency that results in higher antigen load and increased antibodies against to nutritional antigens such as anti-gliadin IgA antibodies. • Although coexistence of CF and CD are rare in the same patient; there is still no consensus on when children with CF should be screened for CD. What is New: • Physicians should consider the investigation of CD in patients with CF, in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. • CFTR dysfunction has been emphasized to develop susceptibility to CD, and patients with CF who have persistent gastrointestinal symptoms despite appropriate and adequate nutritional and enzyme replacement treatment should be screened for CD.
患者囊性纤维化 (CF) 比健康人群有更高的发病率乳糜泻 (CD); 然而，共存 CF 和 CD 的实际发病率尚不清楚。在本报告中，我们旨在评估 CD 和 CF 共存的频率，并评估受影响患者在随访期间的临床发现。我们对 CF 患者进行了回顾性研究，以揭示 CD 的频率，还研究了 CD 患者的临床特征和对无麸质饮食的临床反应。在 515 例 CF 患者中，CD 的发病率为 1.4%。CF 诊断时的中位年龄为 2 个月 (1-6 个月)。6 例体重增长不良、脂肪便、BMI z 评分低和 1 例尽管高蛋白和高卡路里饮食且胰腺酶替代治疗但体重增长不良的患者诊断为 CD。CD 的中位诊断年龄为 8 岁 (2-12 岁)。除了一名最近诊断的患者外，其他 6 名患者在开始无麸质饮食后体重增加，伴随症状得到缓解。结论：在存在体重和/或身高增长不足或尽管进行了适当和充分的营养和酶替代治疗，但吸收不良症状仍未得到良好控制的情况下，应在 CF 患者中调查 CD。已知：• CFTR 功能障碍可能是 CD 的一个危险因素，原因是肠通透性和肠道炎症增加、胰腺外分泌不足导致抗原负荷增加和对营养抗原的抗体增加，如抗麦胶蛋白 IgA 抗体。• 尽管在同一患者中 CF 和 CD 共存罕见;对于何时应筛查 CF 儿童 CD 仍没有共识。新内容：• 医生应考虑在存在体重和/或身高增长不足或尽管进行了适当和充分的营养和酶替代治疗，但吸收不良症状仍未得到良好控制的情况下，在 CF 患者中调查 CD。• CFTR 功能障碍已被强调为易患 CD 的原因，对于尽管进行了适当和充分的营养和酶替代治疗，但仍有持续胃肠道症状的 CF 患者，应筛查 CD。
