Elisa Negri1, Riccardo Coletta2, Antonino Morabito3. 1. Department of Pediatric Surgery, Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy. Electronic address: elisa.negri@unifi.it. 2. Department of Pediatric Surgery, Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy; School of Environment and Life Science, University of Salford, Salford, United Kingdom. 3. Department of Pediatric Surgery, Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy; Dipartimento di Neuroscienze, Psicologia, Area del farmaco e della Salute del Bambino NEUROFARBA, University of Florence, Viale Pieraccini 6, 50121 Florence, Italy.
Abstract
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.
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 CSBSpatients. 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.
Authors: Kareem Abu-Elmagd; George Mazariegos; Sherif Armanyous; Neha Parekh; Ayat ElSherif; Ajai Khanna; Beverly Kosmach-Park; Giuseppe D'Amico; Masato Fujiki; Mohammed Osman; Marissa Scalish; Amanda Pruchnicki; Elizabeth Newhouse; Ahmed A Abdelshafy; Erick Remer; Guilherme Costa; R Matthew Walsh Journal: Ann Surg Date: 2021-10-01 Impact factor: 12.969