Motzkau M, Meyer P, Mertens P R, Klose S
Department of Nephrology and Hypertension, Diabetes and Endocrinology, Otto-von-Guericke University of Magdeburg, Germany.
Exp Clin Endocrinol Diabetes. 2012 Feb;120(2):89-90. doi: 10.1055/s-0031-1284378. Epub 2011 Sep 15.
Diabetes mellitus classified as Maturity Onset Diabetes of the Young (MODY) is characterized by autosomal dominant inheritance with insulin secretory disturbances.
In 2 siblings with diabetes mellitus manifestation at age under 25 years, low fasting glucose levels, severely elevated glucose levels upon glucose challenge and absent autoantibodies for IA2 and GAD clarification for MODY was sought. Mutational screening for MODY 1-3 mutations was carried out by direct sequencing followed by multiplex ligation-dependent probe amplification (MLPA).
We identified a mutation within the hepatic nuclear factor 4A (HNF-4A) gene hitherto unreported for MODY-1. A causative role of the mutation is not proven, however in the 2 index patients similar phenotypes are present. These cases underline the necessity to screen for MODY when the medical history and lack of autoantibodies suggest alternative diagnoses beside type 1 diabetes.
被归类为青年发病型成年糖尿病（MODY）的糖尿病，其特征为常染色体显性遗传伴胰岛素分泌紊乱。
在2名25岁以下出现糖尿病症状的同胞中，空腹血糖水平较低，葡萄糖耐量试验时血糖水平严重升高，且不存在IA2和谷氨酸脱羧酶自身抗体，因此对MODY进行了排查。通过直接测序，随后进行多重连接依赖探针扩增（MLPA），对MODY 1 - 3突变进行了突变筛查。
我们在肝细胞核因子4A（HNF - 4A）基因中鉴定出一个此前未报道与MODY - 1相关的突变。然而，该突变的致病作用尚未得到证实，但在2例索引患者中存在相似的表型。这些病例强调，当病史和自身抗体缺乏提示除1型糖尿病外的其他诊断时，有必要对MODY进行筛查。
