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Published on: December 1, 2012
Congenital short bowel syndrome: Clinical aspects by systematic review
Barblin Remund1, Susanne Schibli1, Christiane Sokollik1
1Department of Paediatrics, Inselspital, Division of Paediatric Gastroenterology, Hepatology and Nutrition Bern University Hospital, University of Bern Bern Switzerland.
Insights
Congenital short bowel syndrome (CSBS) is a rare genetic disorder. Most infants achieve enteral autonomy, but complications from parenteral nutrition pose the greatest risk.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
- Neonatology
Background:
- Congenital short bowel syndrome (CSBS) is a rare intestinal disorder.
- Mutations in CLMP and FLNA genes are primary causes.
- Clinical features and prognostic factors require further elucidation.
Purpose of the Study:
- To evaluate diagnostic approaches for CSBS.
- To identify prognostic factors for improved patient care.
- To analyze published cases for clinical insights.
Main Methods:
- Systematic review of published CSBS cases (2000-2024).
- Analysis of genetic mutations, clinical presentation, and outcomes.
- Evaluation of diagnostic and prognostic factors.
Main Results:
- CLMP mutations found in 57.1% and FLNA in 25.7% of genetically analyzed cases.
- High incidence of malrotation (87.2%) and need for parenteral nutrition (PN).
- 60% achieved enteral autonomy; mortality primarily due to sepsis.
Conclusions:
- CSBS diagnosis requires imaging and genetic testing for prognosis.
- Early enteral autonomy may lead to underestimation of incidence.
- PN complications are the main risk for adverse outcomes.
Objectives:
Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor-like membrane protein (CLMP) and Filamin A (FLNA) genes. Clinical features are not well described; therefore, we aim to improve patient care by evaluating diagnostic approaches and identifying prognostic factors through the analysis of published cases.
Methods:
We performed a systematic review of cases published between 2000 and 2024.
Results:
Genetic analysis in 35 of the 61 CSBS cases revealed a CLMP mutation in 57.1%, FLNA in 25.7%, and others in 17.1%. Consanguinity was common with 42.4%. Nine families had affected siblings. Most cases were term births with normal birth weight. The first symptoms occurred after a median of 0.6 weeks, mostly vomiting and diarrhea. Median (range) small bowel length was 50.0 (20-85) cm. Comorbidities included malrotation in 87.2%. Nearly all cases required parenteral nutrition (PN), with 60% achieving enteral autonomy after a median follow-up of 15 months. Nine children died before the age of 2 years, six due to sepsis. No intestinal malignancy was reported.
Conclusions:
CSBS presents shortly after birth with the majority of affected cases achieving enteral autonomy in infancy, which may lead to an underestimation of incidence rates. Radiological imaging can be used to determine bowel length for diagnostic purposes and to initiate genetic counseling. Genetic testing is essential for mutation-specific prognosis and patient management. Complications associated with PN pose the greatest risk for adverse outcomes.
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