4.5 Article

Monogenic diabetes clinic (MDC): 3-year experience

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Endocrinology & Metabolism

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations

Avivit Brener et al.

Summary: This study describes three unique cases of childhood-onset diabetes where skeletal manifestations led to the identification of rare types of diabetes. The results demonstrate that understanding the precise genetic cause for the clinical manifestations can predict phenotypic presentations and enhance clinical outcomes.

ACTA DIABETOLOGICA (2022)

Article Endocrinology & Metabolism

Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the UK

Lewis Pang et al.

Summary: In recent years, the diagnosis and case confirmation rate of maturity-onset diabetes of the young (MODY) have tripled. This is likely due to the implementation of targeted next-generation sequencing, genetic diabetes nurse education, and the use of the MODY probability calculator.

DIABETES CARE (2022)

Article Endocrinology & Metabolism

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

Kashyap A. Patel et al.

Summary: This study found that recessively inherited mutations are a common cause of monogenic diabetes in populations with high rates of consanguinity. Present testing strategies focusing on MODY genes do not identify all affected individuals. Including recessive genes in genetic panels and selecting children for testing based on certain non-autoimmune extra-pancreatic features in addition to current criteria is crucial to detect all cases of monogenic pediatric diabetes.

DIABETOLOGIA (2022)

Article Endocrinology & Metabolism

Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2

Conor McClenaghan et al.

Summary: The study identified a previously uncharacterized KCNJ11 gene mutation that causes neonatal diabetes with developmental delay. The mutation reduces ATP inhibition, resulting in a significant gain-of-function in K-ATP channels and loss of sensitivity to sulfonylurea therapy in the patient.

HORMONE RESEARCH IN PAEDIATRICS (2022)

Review Endocrinology & Metabolism

The application of precision medicine in monogenic diabetes

Fabrizio Barbetti et al.

Summary: Monogenic diabetes is a form of diabetes caused by a mutation in a single gene, with over 40 loci associated with isolated or syndromic monogenic diabetes. While genetic testing is mandatory for cases with diabetes onset in the first 6 months of life, decision-making for childhood or adolescent diabetes can be challenging. Technical improvements in DNA sequencing allow for rapid analysis of all genes involved in monogenic diabetes, but the analysis of genetic data requires close cooperation between geneticists and diabetologists.

EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM (2022)

Article Endocrinology & Metabolism

Genotype-phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetes

Nicholas Ng et al.

Summary: HNF1β-MODY patients present with multiorgan diseases, including diabetes, renal, and pancreatic morphological abnormalities. Patients have impaired insulin secretion and show poor response to sulphonylurea therapy.

ACTA DIABETOLOGICA (2022)

Article Endocrinology & Metabolism

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

Cecile Saint-Martin et al.

Summary: Gene panel sequencing is used to analyze rare forms of monogenic diabetes. In this study, 18 genes were analyzed in 1,676 patients and mutations were found in genes associated with genetic syndromes. The most common mutation was the m.3243A>G variant, which is associated with maternally inherited diabetes and deafness. Other mutations unrelated to diabetes were also found, suggesting that restricting gene analysis to specific phenotypes may miss patients.

DIABETES (2022)

Article Pediatrics

SGLT2i Improves Glycemic Control in Patients With Congenital Severe Insulin Resistance

Alfonso Galderisi et al.

Summary: Insulin-resistant diabetes in Rabson-Mendenhall syndrome (RMS) is unresponsive to first-line antidiabetic treatments. This study reports the successful use of empagliflozin and dapagliflozin in two patients with RMS, improving glycemic control without significant increase in ketonemia.

PEDIATRICS (2022)

Article Endocrinology & Metabolism

Combination Therapy With Semaglutide and Dapagliflozin as an Effective Approach for the Management of Type A Insulin Resistance Syndrome: A Case Report

Jose Ignacio Martinez-Montoro et al.

Summary: Type A insulin resistance syndrome is a rare genetic disorder characterized by severe insulin resistance and eventual development of diabetes. This study reports for the first time the use of combination therapy for the treatment of diabetes in patients with type A insulin resistance syndrome.

FRONTIERS IN ENDOCRINOLOGY (2022)

Article Endocrinology & Metabolism

Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients

Sabrina Prudente et al.

ACTA DIABETOLOGICA (2022)

Article Endocrinology & Metabolism

Differences between Transient Neonatal Diabetes Mellitus Subtypes can Guide Diagnosis and Therapy

Riccardo Bonfanti et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2021)

Article Biochemistry & Molecular Biology

Mutations and variants of ONECUT1 in diabetes

Anne Philippi et al.

Summary: This study demonstrates that mutations in ONECUT1 can cause monogenic recessive syndromic diabetes and define a subgroup of patients with early-onset diabetes who respond well to treatment. Additionally, variations in ONECUT1 are associated with multifactorial type 2 diabetes. The loss of ONECUT1 impairs pancreatic progenitor formation and endocrine program, highlighting its broad contribution to diabetes pathogenesis.

NATURE MEDICINE (2021)

Article Endocrinology & Metabolism

Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration

Jennifer N. Todd et al.

Summary: This study found a prevalence of 2.8% of MODY in youth clinically diagnosed with type 2 diabetes. Youth with MODY had a younger age at diagnosis, lower fasting C-peptide levels, lower likelihood of hypertension, and higher HDL cholesterol compared to those without MODY. The specific diagnosis of MODY would have changed clinical management in 89% of cases.

DIABETES CARE (2021)

Article Endocrinology & Metabolism

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

Pamela Bowman et al.

Summary: Treating ABCC8-PNDM patients with sulfonylureas long-term results in excellent glycemic control. Most patients show mild neurological features, which may improve after transfer to sulfonylureas, emphasizing the importance of genetic testing and neurodevelopmental assessment.

DIABETES CARE (2021)

Review Biochemistry & Molecular Biology

From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes

Elisa De Franco

JOURNAL OF MOLECULAR BIOLOGY (2020)

Article Genetics & Heredity

Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial

Jeffrey W. Kleinberger et al.

GENETICS IN MEDICINE (2018)

Review Endocrinology & Metabolism

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5

Natascha Roehlen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Maurizio Delvecchio et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)