儿童胰腺囊性纤维化11例临床分析

Clinical analysis of 11 children with pancreatic cystic fibrosis

目的 探讨儿童胰腺囊性纤维化的临床特征,提高对该病的认识,以期早期诊断及治疗.方法 临床资料回顾性分析,2010年1月至2015年12月首都医科大学附属北京儿童医院住院治疗的11例胰腺囊性纤维化患儿的临床表现、实验室检查及治疗等指标.结果 11例经基因检测或汗液试验确诊的胰腺囊性纤维化患儿中,男4例,女7例,年龄分布0.5 ～14.3岁,平均年龄（9.0±3.9）岁,3例患儿有阳性家族史.主要临床表现为营养不良6例,包括轻度、中度及重度营养不良各2例;腹泻4例,粪便性状为黄色稀糊便或稀水便,便次2～5次/d,1例为急性腹泻,3例为慢性腹泻,其中3例患儿有脂肪泻;3例患儿表现有腹痛.11例患儿行腹部B超检查均有胰腺受损表现.6例患儿血淀粉酶及脂肪酶升高.治疗主要为胰酶替代治疗及营养支持治疗.结论 儿童胰腺囊性纤维化较少见,临床以营养不良、腹泻、腹痛为主要表现,治疗以对症支持治疗为主.

Objective To increase the recognition of pancreatic cystic fibrosis （PCF） in children and facilitate diagnosing and treatment of this rare entity.Method This is a retrospective analysis of children who presented to Beijing Children＇s Hospital affiliated to Capital Medical University from January 2010 to December 2015.We describe their clinical features,laboratory testing and management.Result Eleven children were diagnosed with PCF by genetic testing or sweat chloride test during these 5 years,including 4 boys and 7 girls.Their age ranged from 0.5-14.3 （mean 9.0 ± 3.9） years.Family history was positive in 3 children.Significant clinical findings on presentation were：malnutrition 6,including 2 cases of mild,moderate and severe malnutrition each;diarrhea 4 （yellow mushy or watery stool with frequency ranging from 2-5 times a day）,including 1 case of acute diarrhea and 3 of chronic diarrhea,3 of them had steatorrhea;abdominal pain 3.All of them had pancreatic lesions shown by abdominal ultrasound.Blood tests showed 6 cases had elevated serum amylase and lipase.The main treatment was pancreatic replacement therapy and nutritional support.Conclusion PCF is rare in children.Malnutrition,diarrhea and abdominal pain are the main clinical manifestations.Treatment is mostly pancreatic enzymes replacement and supportive care.