Congenital Glucose-Galactose Malabsorption: A Case Report.
نویسندگان
چکیده
Congenital glucose-galactose malabsorption (CGGM) is a rare cause of intractable infantile diarrhea, with only a few hundred cases recognized worldwide. This life-threatening disorder must be considered in the differential diagnosis of an infant who presents with diarrhea and dehydration that fails to respond to standard therapy. The clinical and diagnostic course of an infant with recurrent episodes of watery diarrhea and hypernatremic dehydration found to be homozygous for a rare variant in the SLC5A1 gene, c.187C>T (p.R63X) is described.
منابع مشابه
A Case Report of Glucose-Galactose Malabsorption in Iranian Child
Introduction Glucose-Galactose Malabsorption (GGM) is an autosomal recessive and rare disorder of intestinal transport of glucose and sodium-glucose cotransporter type (SGLT1). Case Report Our patient is a 32-day-old boy who was examined for severe diarrhea and acidosis and was treated with GGMdiagnosis. A number of laboratory tests were performed on this patient as well as positive test for r...
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Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus.
Congenital Glucose Galactose malabsorption (CGGM) is a rare disorder with limited data from the Arab world. We report the first case of CGGM in Oman.B.S.A two years old female who presented with chronic osmotic diarrhea since birth with hypernatraemic dehydration. B.S was found to have Glucose Galactose Malabsorption based on clinical trial of ORS and elemental formula. Symptoms resolved on int...
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عنوان ژورنال:
- Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners
دوره 31 4 شماره
صفحات -
تاریخ انتشار 2017