کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4167007 1607534 2008 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Permanent Neonatal Diabetes Mellitus Caused by a Novel Homozygous (T168A) Glucokinase (GCK) Mutation: Initial Response to Oral Sulphonylurea Therapy
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Permanent Neonatal Diabetes Mellitus Caused by a Novel Homozygous (T168A) Glucokinase (GCK) Mutation: Initial Response to Oral Sulphonylurea Therapy
چکیده انگلیسی

ObjectiveTo evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM).Study designOral glibenclamide was given for 3 months. Pancreatic beta cell function was assessed by a glucagon stimulation test. Mutant and wild-type (WT) GCK were characterized.ResultsSulphonylurea treatment resulted in a 12-fold increase in basal and stimulated C-peptide levels. HbA1c levels were reduced from 9.4% to 8.1% on a reduced insulin dose (0.85 to 0.60 U/kg/day). Mutant T168A-GST-GCK showed reduced kinetic activity (0.02 fold) compared to WT.ConclusionsSulphonylureas can close the adenosine triphosphate (ATP)-sensitive potassium channel and elicit insulin secretion, but the ATP generated from metabolism is insufficient to fully restore insulin secretory capacity. Nonetheless, sulphonylurea treatment should be tried in patients with GCK-PNDM, particularly those with mutations resulting in less severe kinetic defects, in whom improved glycemic control may be obtained with lower doses of insulin.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 153, Issue 1, July 2008, Pages 122–126
نویسندگان
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