先天性短肠综合征:1例新发基因变异病例报道及文献回顾

Congenital short bowel syndrome:a case report of a novel genetic variation and literature review

目的分析先天性短肠综合征(CSBS)患儿的基因特点及诊疗进展。方法回顾分析我院新生儿重症监护室收治的1例CSBS患儿的临床资料及诊治经过,同时回顾国内外相关CSBS报道文献,对其中符合纳入标准的病例进行总结分析。结果我院收治的男性患儿,23日龄,出生后即出现反复呕吐、腹泻及体质量不增现象,全消化道造影显示肠旋转不良(不典型),伴高位不全性肠梗阻,家系全外显子测序显示其CLMP基因存在1个杂合变异:NM_024769,3:c.244C>T(p.R82^(*)),3-5号外显子缺失,父母均为杂合子。对纳入满足检索策略及纳入标准的28例(包括本例)CSBS患儿进行分析,总结临床资料。其中8例FLNA突变(28.6%),20例CLMP突变(71.4%),平均小肠长69.55(中位50)cm。肠旋转不良占82.14%,78.6%的病例病初以剖腹探查确诊,截至最新相关报道发布时间,有19例存活(67.9%)。结论CSBS与CLMP及FLNA基因突变缺失有关,建议对出现反复呕吐、腹泻,提示有短肠综合征可能性的患儿,尽早完善基因测序以明确诊断,并尽早开始静脉营养及制定个体化营养管理方案,对保证患儿安全、改善预后有重要的临床意义。

Objective To analyze the genetic characteristics and treatment progress of patients with congenital short bowel syndrome(CSBS).Methods The clinical data,diagnosis and treatment of 1 patient with CSBS admitted to neonatal intensive care unit of our hospital were retrospectively analyzed.Meanwhile,relevant domestic and foreign reports and literatures were reviewed,and the cases that met the inclusion criteria were summarized and analyzed.Results A 23-day-old male patient admitted to our hospital presented with recurrent vomiting,diarrhea and no weight gain immediately after birth,total gastrointestinal angiography showed intestinal malrotation(atypical)with high incomplete ileus,and whole exon sequencing showed a heterozygous variation of CLMP gene in the family:NM_024769,3:c.244C>T(p.R82^(*)),exon 3-5 missing,and both parents were heterozygous.Twenty-eight CSBS patients(including this case)who met the retrieval strategy and inclusion criteria were included and analyzed,and their clinical data were summarized.There were 8 FLNA mutations(28.6%)and 20 CLMP mutations(71.4%),with a mean intestinal length of 69.55(median 50)cm.Intestinal malrotation accounted for 82.14%,and 78.6%of the cases were initially diagnosed by laparotomy.Up to the time of the latest report,19 cases(67.9%)survived.Conclusion CSBS seems to be associated with the missing gene mutations of CLMP and FLNA.We suggest that for children with recurrent vomiting and diarrhea indicating the possibility of short bowel syndrome,gene sequencing should be performed as soon as possible to confirm the diagnosis,intravenous nutrition should be started as soon as possible,and individualized nutrition management plan should be developed,which is of great clinical significance to ensure the safety and improve the prognosis of children.