Open Access一种新的SLC5A2基因杂合突变导致严重的糖尿、轻度的生长障碍和亚临床低血糖
Author(s) -
Papadimitriou Dimitrios T.,
Manolakos Emmanouil,
Dermitzaki Eleni,
Filiousi Fotini,
Papoulidis Ioannis,
Zoupanos Georges,
Provenzano Aldesia,
Mastorakos George
Publication year - 2021
Publication title -
journal of diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.949
H-Index - 43
eISSN - 1753-0407
pISSN - 1753-0393
DOI - 10.1111/1753-0407.13183
Subject(s) - failure to thrive , medicine , glycosuria , subclinical infection , hypoglycemia , diabetes mellitus , mutation , gene , gastroenterology , endocrinology , genetics , biology
Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2‐year‐old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced at 1% with 1 g/Kg uncooked cornstarch at bed‐time milk and eliminated (0%) adjusting the dose at 1.5 g/Kg, as shown by Flash technology.