Congenital short bowel syndrome: a case report of a novel genetic variation and literature review
Journal Title: Journal of Air Force Medical University - Year 2023, Vol 44, Issue 3
Abstract
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-dayold 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.
Authors and Affiliations
WU Yuxuan, DOU Le, ZHANG Wenwei, FENG Xue, FENG Jinxing
Keywords
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