Monogenetic Etiologies of Diabetes

Article Endocrinology & Metabolism

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Thomas W. Laver et al.

Summary: This study found no evidence to support BLK, KLF11, and PAX4 as causes of MODY. These genes should not be included in genetic testing for MODY.

DIABETES (2022)

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Article Endocrinology & Metabolism

2. Classification and Diagnosis of Diabetes: Standards of Medical Care in Diabetes-2022

Summary: The American Diabetes Association's Standards of Medical Care in Diabetes provide clinical practice recommendations, treatment goals, and tools for evaluating the quality of care in diabetes management.

DIABETES CARE (2022)

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Review Endocrinology & Metabolism

Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY)

Mustafa Tosur et al.

Summary: Maturity-onset diabetes of the young (MODY) is an early-onset monogenic form of diabetes with autosomal dominant inheritance. Significant progress has been made in understanding the clinical presentations, molecular diagnostics, and therapeutic responses of MODY since its first description. The prevalence of MODY varies significantly by geographic region, and GCK-MODY, HNF1A-MODY, and HNF4A-MODY are the most common subtypes. Treatment options and risk of complications also differ between MODY subtypes.

JOURNAL OF DIABETES INVESTIGATION (2022)

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Article Endocrinology & Metabolism

Approach to the Patient with MODY-Monogenic Diabetes

David T. Broome et al.

Summary: Maturity-onset diabetes of the young (MODY) is a genetic form of diabetes that remains underdiagnosed. Diagnosis involves clinical presentation, family history, lab, and genetic testing. Treatment and monitoring depend on the identified variant.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

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Review Medicine, Research & Experimental

Monogenic diabetes: a gateway to precision medicine in diabetes

Haichen Zhang et al.

Summary: Monogenic diabetes, caused by mutations in a single gene, accounts for 1%-5% of diabetes cases. Correct diagnosis is crucial, but overlapping clinical features with type 1 and type 2 diabetes often lead to misdiagnosis. Improvements in sequencing technology offer opportunities for diagnosis, but challenges still remain.

JOURNAL OF CLINICAL INVESTIGATION (2021)

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Article Medicine, General & Internal