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Published on: December 1, 2012
Congenital short bowel syndrome: systematic review of a rare condition
Elisa Negri1, Riccardo Coletta2, Antonino Morabito3
1Department of Pediatric Surgery, Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy.
Insights
Congenital short bowel syndrome (CSBS) is a rare condition impacting infant gut development. Advances in medical management have significantly improved survival rates for affected children, with genetic links identified.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Neonatal Surgery
Background:
- Congenital short bowel syndrome (CSBS) is a rare gastrointestinal disorder characterized by reduced small bowel length.
- Etiology remains unknown, leading to complications like chronic diarrhea, vomiting, and failure to thrive due to decreased intestinal absorptive surface.
Purpose of the Study:
- To review the clinical features and outcomes of patients diagnosed with CSBS.
- To investigate potential genetic underpinnings and survival trends in CSBS.
Main Methods:
- Systematic review of studies on CSBS using PubMed and EMBASE.
- Inclusion criteria: diagnosis of CSBS between 33 weeks gestational age and 15 years; exclusion criteria: history of gastrointestinal atresia or extensive surgical resections.
- Data analysis included qualitative and quantitative variables, expressed as mean and interquartile range (IQR).
Main Results:
- Sixty-one patients (38 males, 23 females) were identified with a mean bowel length of 58.24 cm.
- Malrotation of the midgut was present in 98.4% of cases. Survival rates improved significantly from 28.5% before 2008 to 75% after 2008.
- Sepsis was the leading cause of death (57.9%). Genetic analysis of 18 patients revealed mutations in FLNA (38.8%) or CLMP (61.1%).
Conclusions:
- CSBS appears to be linked to autosomal recessive (CLMP) or X-linked (FLNA) inheritance patterns.
- Improved medical management has enhanced survival rates in recent years.
- Further genetic research is crucial for understanding CSBS etiology and developing personalized treatments.
Background:
Congenital short bowel syndrome (CSBS) is a rare gastrointestinal disorder caused by intrauterine reduction of small bowel length whose etiology is still unknown. Chronic diarrhea, vomiting, and failure to thrive are the most important complications, arising from less absorptive intestinal surface. This review examines clinical features and outcomes of CSBS patients.
Methods:
A PubMed and EMBASE research on CSBS was performed. Inclusion criterion was congenital short bowel diagnosis in a range of ages between 33 weeks of gestational age and 15 years old (IQR 38 days). Exclusion criteria were history of atresia of any part of the gastrointestinal tract and extensive surgical bowel resections. Qualitative and quantitative variables were collected and analyzed. Data were expressed in mean and IQR.
Results:
Sixty-one patients were identified (38 males, 23 females) from 1969 to date. Mean bowel length was 58.24 cm (IQR 37.5). Malrotation of the midgut was seen in 98.4% of cases. Our data showed an interesting trend in improving the survival rate of these patients (from 28.5% before 2008 to 75% in the period after 2008). Sepsis was the most frequent cause of death reported (57.9%). Interestingly, 18 patients were genetically analyzed, finding mutations either in FLNA gene (38.8%) or in CLMP gene (61.1%).
Conclusions:
CSBS is a condition that seems to be related to an autosomal recessive (CLMP) or an X linked (FLNA) type of inheritance. Advance in medical management seems to have improved survival of these children in recent years. Further genetic studies can better understand the causes of this disease aiming to create personalized treatment.
Type Of Study:
Systematic review.
Level Of Evidence:
Level IV.
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