Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Autor:	Barut D; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Kıran Taşcı E; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Kunay B; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Güven B; Department of Pediatric Gastroenterology Hepatology and Nutrition, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Aksoy B; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey., Çağan Appak Y; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Izmir Katip Çelebi University, İzmir, Turkey., Karakoyun M; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Çetin F; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey., Selimoğlu A; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School, Memorial Ataşehir/Bahçelievler Hospital, İstanbul, Turkey., Onay H; Department of Medical Genetics, Ege University Hospital, Izmir, Turkey., Aydoğdu S; Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition Disease, Medical School of Ege University, Izmir, Turkey.
Jazyk:	angličtina
Zdroj:	Scandinavian journal of gastroenterology [Scand J Gastroenterol] 2024 Jun; Vol. 59 (6), pp. 647-651. Date of Electronic Publication: 2024 Mar 08.
DOI:	10.1080/00365521.2024.2324961
Abstrakt:	Background: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase ( SI ) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. Methods: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints. Results: Ten patients with chronic diarrhea were genetically evaluated with SI gene sequencing. In patients diagnosed with CSID and whose symptoms improved with enzyme replacement therapy, the genetic mutation zygosity was found to be heterozygous at a rate of 90%. In 10% of the patients, the mutation was homozygous. Limiting consuming sucrose and isomaltose foods reduced the patients' complaints, but the symptoms did not disappear completely. With the initiation of sacrosidase enzyme replacement therapy, the patient's complaints completely disappeared. Conclusion: In CSID, defined as an autosomal recessive disease, clinical symptoms can also be seen in heterozygous cases previously described as carriers, and these patients also benefit from sacrosidase enzyme replacement therapy. In light of these findings, the autosomal recessive definition of CSID does not fully characterize the disease.What is Known:CSID is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase gene variants.In congenital sucrase-isomaltase deficiency, an autosomal recessively inherited disorder, symptoms can also be seen in individuals with heterozygous mutations.What is new:Severe disease symptoms can also be seen in heterozygous cases, which were thought to be carriers because the disease was previously described as autosomal recessive.Sacrosidase enzyme replacement therapy also eliminates the disease symptoms in patients with heterozygous CSID mutations. This is the second study on sucrase-isomaltase enzyme deficiency pediatric groups in Türkiye and Europe.
Databáze:	MEDLINE
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