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Congenital Short‐Bowel Syndrome: Clinical and Genetic Presentation in China
Author(s) -
Wang Ying,
Chen Shanshan,
Yan Weihui,
Lu Lina,
Tao Yijng,
Xiao Yongtao,
Cai Wei
Publication year - 2021
Publication title -
journal of parenteral and enteral nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.935
H-Index - 98
eISSN - 1941-2444
pISSN - 0148-6071
DOI - 10.1002/jpen.1974
Subject(s) - short bowel syndrome , gastroenterology , medicine , parenteral nutrition , failure to thrive , etiology
Background Congenital short‐bowel syndrome (CSBS) is a rare disorder characterized by retardation of intestinal development. However, it is still not well recognized at present. In this study, the etiological, clinical, and genetic characteristics of CSBS in China were analyzed. Methods Nine infants with CSBS were recruited. Full‐thickness biopsy findings were evaluated by histopathology. Whole‐exome sequencing was performed to identify mutations in patients and their family members. All patients were followed up at >1 year of age. Results Six of 9 infants had malrotation, and 2 patients had intestinal atresia. The average total small‐bowel length was 51.7 (40–75) cm. Coxsackie and adenovirus receptor‐like membrane protein ( CLMP ) mutations were found in 5 patients and were related to decreases in ileal goblet cells and mucous secretion. Among these 5 patients, 3 shared the same mutation (c. 206G>A p.R69H), 1 patient had an exon 3–5 deletion, and 1 patient had the C.655T>G, p.Cys219Gly, and C.389‐2A>C. Another case carried a loss‐of‐function mutation in filamin A ( FLNA ). In the other 3 patients, no pathogenic mutations in genes related to intestinal development were found. The rate of catheter‐related bloodstream infection was 4.3 per 1000 catheter days, and intestinal failure–associated liver disease (IFALD) was 77.8%. The median follow‐up duration was 24.1 months. Eight patients were weaned off parenteral nutrition (PN). Six patients still exhibited malnutrition during follow‐up. Conclusions Infants with CSBS often need long‐term PN and remain at risk of SBS‐related complications. CLMP and FLNA mutations are associated with CSBS in the Chinese population.