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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom