Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children.
BMC Pediatr
; 14: 11, 2014 Jan 16.
Article
em En
| MEDLINE
| ID: mdl-24433566
ABSTRACT
BACKGROUND:
Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder. The prevalence of CSID in Chinese population is unknown and no single case has been reported.METHODS:
Sucrose tolerance tests were performed in three children suspected of CSID. Glucose tolerance tests were performed to exclude glucose malabsorption. Blood glucose was measured at fasting and at 30 min, 60 min, 120 min, and 180 min of the study. Gastrointestinal symptoms were recorded up to 4 hours after the study.RESULTS:
From December 2008 to June 2011, three children, ranging from 16 to 19 months old, were referred to our tertiary children's hospital due to chronic watery diarrhea and failure to thrive. Laboratory investigations including complete blood counts, ESR, CRP, and serum immunoglobulins were normal. Routine stool culture for bacteria and exam for parasites were negative. Upper endoscopy, colonoscopy and histology were unremarkable. All children failed lactose-free and amino acid-based formulas. All three children had flat sucrose tolerance tests and began to have watery stool 2-4 hours after feeding sucrose test solution. The glucose tolerance tests were normal and no children developed watery stools up to 4 hours after feeding glucose test solution.CONCLUSIONS:
This is the first case series of CSID in Chinese children. The diagnosis of CSID can be made based on clinical suspicion and sucrose tolerance test. CSID is probably an under-diagnosed or misdiagnosed disease in Chinese children and should be considered in children with chronic watery diarrhea.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Complexo Sacarase-Isomaltase
/
Erros Inatos do Metabolismo dos Carboidratos
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article