The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

被引：91

作者：

Karaa, Amel ^{[1
]}

Goldstein, Amy ^{[2
]}

机构：

[1] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Neurogenet Clin, Boston, MA USA

[2] Univ Pittsburgh, Childrens Hosp Pittsburgh, Sch Med, UPMC,Div Child Neurol, Pittsburgh, PA USA

来源：

PEDIATRIC DIABETES | 2015年 / 16卷 / 01期

关键词：

diabetes; Kearns Sayre syndrome; MELAS; mitochondria; mtDNA; DNA MUTATION; MELAS SYNDROME; DEAFNESS; MANIFESTATIONS; HETEROPLASMY; RESISTANCE; DISORDERS; BLOOD;

D O I：

10.1111/pedi.12223

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to be even higher because of the complexity of achieving a diagnosis in many patients who present with multisystemic complaints ranging from infancy to adulthood. Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial disorders and describe the phenotypic and pathogenetic differences between mitochondrial diabetes mellitus (mDM) and other more common forms of diabetes mellitus.

引用

页码：1 / 9

页数：9

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