Open AccessFirst case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment
Author(s) -
Ioacara Sorin,
Flanagan Sarah,
FröhlichReiterer Elke,
Goland Robin,
Fica Simona
Publication year - 2017
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.12620
Subject(s) - glibenclamide , medicine , diabetes mellitus , insulin , endocrinology , glycated hemoglobin , epilepsy , mutation , pediatrics , type 2 diabetes , gene , genetics , biology , psychiatry
In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mutation is so severe that none of the previously reported four cases were able to switch from insulin to sulphonylurea monotherapy. The Q52R mutation seems to have a chance of positive response to glibenclamide administered every 3–6 h instead of the classical 8–12 h, in doses around or above 2.5 mg/kg/day.