Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates

J Genet. 2023;102:31.

PMID: 37349966

Didem Gulcu Taskin, Hasret Ayyildiz Civan, Emine Ergül Sari

Highlights: This clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey.

Abstract:

Background: A rare autosomal carbohydrate malabsorption disease called congenital sucrase-isomaltase deficiency (CSID) is brought on by mutations in the sucrase-isomaltase gene. While the frequency of CSID is significant in the native Alaskan and Greenlandic communities, it is hazy and confusing in the pediatric Turkish community.

Methods: This cross-sectional case-control study, which is retrospective in nature, analyzed the data of 94 pediatric patients with chronic nonspecific diarrhea who had undergone next-generation sequencing (NGS). The CSID patients' demographic information, clinical symptoms, and treatment outcomes were examined.

Results: Ten additional heterozygous mutations were found in addition to one novel homozygous frame-shift mutation. Nine cases came from different families, while two cases were from the same family. While the median age at which symptoms first appeared was 6 months (0–12), the median age at which a diagnosis was made was 60 months (18–192), with a median delay in diagnosis of 5 years and 5 months (10 months –15 years and 5 months). Diaper dermatitis (36.3%), growth retardation (81%), abdominal pain (54.5%), vomiting after sucrose consumption (27.2%), and diarrhea (100%) were all clinical signs.

Conclusion: According to the clinical study, persistent diarrhea patients in Turkey may not have been properly diagnosed with sucrase-isomaltase deficiency. Additionally, those with heterozygous mutations responded well to treatment and their frequency of carrying the mutation was much higher than that of those with homozygous mutations.

Keywords: sucrase-isomaltase deficiency, chronic diarrhea, next-generation sequencing (NGS)