[Clinical phenotypes and genotypic spectrum of cystic fibrosis with pancreatic insufficiency in children].

Objective: To investigate the clinical phenotypes and genotypic spectrum of exocrine pancreatic insufficiency in children with cystic fibrosis. Methods: This was a retrospective analysis of 12 children with cystic fibrosis who presented to Children's Hospital of Fudan University from December 2017 to December 2021. Clinical features, fecal elastase-1 level, genotype, diagnosis and treatment were systematically reviewed. Results: A total of 12 children, 7 males and 5 females, diagnosis aged 5.4 (2.0, 10.6) years, were recruited. Common clinical features included chronic cough in 12 cases, malnutrition in 7 cases, steatorrhea in 7 cases, bronchiectasis in 5 cases and electrolyte disturbance in 4 cases. Exocrine pancreatic insufficiency were diagnosed in 8 cases,the main clinical manifestations were steatorrhea in 7 cases, of which 5 cases started in infancy; 6 cases were complicated with malnutrition, including mild in 1 case, moderate in 2 cases and severe in 3 cases; 3 cases had abdominal distension; 2 cases had intermittent abdominal pain; 4 cases showed fatty infiltration or atrophy of pancreas and 3 cases showed no obvious abnormality by pancreatic magnetic resonance imaging or B-ultrasound. All 8 children were given pancreatic enzyme replacement therapy, follow-up visit of 2.3 (1.2,3.2) years. Diarrhea significantly improved in 6 cases, and 1 case was added omeprazole due to poor efficacy. A total of 20 variations of CFTR were detected in this study, of which 7 were novel (c.1373G>A,c.1810A>C,c.270delA,c.2475_2478dupCGAA,c.2489_c.2490insA, c.884delT and exon 1 deletion). Conclusions: There is a high proportion of exocrine pancreatic insufficiency in Chinese patients with cystic fibrosis. The main clinical manifestations are steatorrhea and malnutrition. Steatorrhea has often started from infancy. Pancreatic enzyme replacement therapy can significantly improve the symptoms of diarrhea and malnutrition.目的： 探讨囊性纤维化患儿中胰腺外分泌功能不全的临床及基因型特征。 方法： 回顾性分析复旦大学附属儿科医院2017年12月至2021年12月经汗液氯离子浓度及全外显子测序确诊的12例囊性纤维化患儿的临床表型、粪便弹性蛋白酶1水平、基因型、诊断及治疗情况等信息，对其临床表型和基因型进行总结。 结果： 12例患儿中男7例、女5例，确诊年龄5.4（2.0，10.6）岁，常见临床表现包括慢性咳嗽12例、营养不良7例、脂肪泻7例、支气管扩张5例、低钾低氯性碱中毒4例。8例患儿合并胰腺外分泌功能不全，主要的临床表现为脂肪泻7例，其中5例起病于婴儿期；营养不良6例，包括轻度1例、中度2例、重度3例；3例患儿有腹胀；2例患儿有间断腹痛；7例患儿完善胰腺磁共振成像或B超，4例提示胰腺脂肪浸润或体积缩小，3例未见明显异常；8例患儿均给予胰酶替代治疗，随访2.3（1.2，3.2）年，6例患儿脂肪泻症状明显改善，1例因疗效不佳而加用奥美拉唑。共检测出20个CFTR基因变异位点，其中7个为新发现变异（c.1373G>A、c.1810A>C、c.270delA、c.2475_2478dupCGAA、c.2489_c.2490insA、c.884delT、1号外显子缺失）。 结论： 我国囊性纤维化患儿多存在胰腺外分泌功能不全，临床以婴儿期起病的脂肪泻及营养不良为主要表现。胰酶替代治疗能显著改善腹泻及营养不良症状。.