Approach to the Patient with MODY-Monogenic Diabetes

被引:87
作者
Broome, David T. [1 ]
Pantalone, Kevin M. [1 ]
Kashyap, Sangeeta R. [1 ]
Philipson, Louis H. [2 ,3 ]
机构
[1] Cleveland Clin Fdn, Dept Endocrinol Diabet & Metab, 9500 Euclid Ave,Mail Code F-20, Cleveland, OH 44195 USA
[2] Univ Chicago, Kovler Diabet Ctr, Dept Med, Chicago, IL 60637 USA
[3] Univ Chicago, Kovler Diabet Ctr, Dept Pediat, Chicago, IL 60637 USA
基金
美国国家卫生研究院;
关键词
MODY; diagnosis; treatment; pregnancy; monitoring; INDUCED INSULIN-SECRETION; GLUCOKINASE MUTATIONS; GLYCEMIC CONTROL; GENETIC DIAGNOSIS; RECEPTOR AGONIST; ONSET; YOUNG; HNF1A-MODY; RISK; AUTOANTIBODIES;
D O I
10.1210/clinem/dgaa710
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Maturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-effective treatment regimen, and the potential impact on multiple family members. Proper recognition of the clinical manifestations, family history, and cost-effective lab and genetic testing provide the diagnosis. All patients must undergo a thorough history, physical examination, multigenerational family history, lab evaluation (glycated hemoglobin A1c [HbA1c], glutamic acid decarboxylase antibodies [GADA], islet antigen 2 antibodies [IA-2A], and zinc transporter 8 [ZnT8] antibodies). The presence of clinical features with 3 (or more) negative antibodies may be indicative of MODY-monogenic diabetes, and is followed by genetic testing. Molecular genetic testing should be performed before attempting specific treatments in most cases. Additional testing that is helpful in determining the risk of MODY-monogenic diabetes is the MODY clinical risk calculator (>25% post-test probability in patients not treated with insulin within 6 months of diagnosis should trigger genetic testing) and 2-hour postprandial (after largest meal of day) urinary C-peptide to creatinine ratio (with a >= 0.2 nmol/mmol to distinguish HNF1A- or 4A-MODY from type 1 diabetes). Treatment, as well as monitoring for microvascular and macrovascular complications, is determined by the specific variant that is identified. In addition to the diagnostic approach, this article will highlight recent therapeutic advancements when patients no longer respond to first-line therapy (historically sulfonylurea treatment in many variants). Learning objectives Upon completion of this educational activity, participants should be able to: center dot Identify risk factors and learn when to suspect MODY-monogenic diabetes center dot Obtain appropriate diagnostic testing and evaluation prior to treatment center dot Determine appropriate monitoring and treatment for microvascular and macrovascular comorbidities center dot Recognize the recommended approach to treatment and monitoring that was performed in a patient with MODY-monogenic diabetes. Target audience This continuing medical education activity should be of substantial interest to endocrinologists and all health care professionals who care for people with diabetes mellitus.
引用
收藏
页码:237 / 250
页数:14
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