临床和遗传学特征及对青年发病成年型糖尿病（MODY）个体的长期评估：寻求恰当治疗的历程。
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment.
机构信息
Grupo de Diabetes Monogênico (Monogenic Diabetes Group), Unidade de Endocrinologia Genética (LIM25), Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), 01246-903 São Paulo, SP, Brazil.
Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM42), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), 01246-903 São Paulo, SP, Brazil.
出版信息
Diabetes Res Clin Pract. 2022 May;187:109875. doi: 10.1016/j.diabres.2022.109875. Epub 2022 Apr 25.
AIMS
To describe the clinical and genetic characteristics and long-term follow-up of a cohort with maturity-onset diabetes of the young (MODY), and to evaluate how molecular diagnosis impacted on treatment.
METHODS
A large observational, retrospective, cohort study included individuals referred to the University of São Paulo's Monogenic Diabetes Unit between 2011 and 2020. Comprehensive clinical and genetic evaluations were performed.
RESULTS
Overall, 228 individuals (190 GCK-MODY and 38 HNF1A-MODY) were enrolled. Sixty-two different GCK gene mutations (5 novel) and 17 HNF1A gene mutations (2 novel) were found. Data were available on treatment status for 76 index individuals with GCK-MODY. Before molecular diagnosis, nutritional intervention alone was used in 41 cases (53.9%). After molecular diagnosis, this number increased to 72 (94.8%). Glycated haemoglobin (HbA) remained stable over the 6-year follow-up period: 6.5% (47 mmol/mol) at the first and 6.3% (45 mmol/mol) at the final visit (p = 0.056). Prior to molecular diagnosis, 7/21 (33.3%) HNF1A-MODY individuals were using sulfonylurea compared to 17/21 (81%) after testing. After a median of 5 years on sulfonylureas, HbA values improved from 7.5% (58 mmol/mol) to 6.5% (48 mmol/mol) (p = 0.006).
CONCLUSIONS
Molecular diagnosis resulted in appropriate adjustment of treatment in approximately 80% of participants with GCK-MODY or HNF1A-MODY.
目的
描述一组青年起病的成年型糖尿病（MODY）患者的临床和遗传特征及长期随访结果，并评估分子诊断对治疗的影响。
方法
这是一项大型的观察性、回顾性队列研究，纳入了 2011 年至 2020 年期间到圣保罗大学单基因糖尿病单位就诊的患者。进行了全面的临床和遗传评估。
结果
共纳入 228 名患者（190 名 GCK-MODY 和 38 名 HNF1A-MODY）。发现了 62 种不同的 GCK 基因突变（5 种为新发现）和 17 种 HNF1A 基因突变（2 种为新发现）。76 名 GCK-MODY 患者的治疗情况数据可用。在分子诊断前，41 例（53.9%）仅采用营养干预。在分子诊断后，这一数字增加到 72 例（94.8%）。糖化血红蛋白（HbA）在 6 年的随访期间保持稳定：首次就诊时为 6.5%（47mmol/mol），末次就诊时为 6.3%（45mmol/mol）（p=0.056）。在分子诊断前，21 名 HNF1A-MODY 患者中有 7 名（33.3%）使用磺脲类药物，而在检测后有 17 名（81%）使用。在使用磺脲类药物中位数 5 年后，HbA 值从 7.5%（58mmol/mol）改善至 6.5%（48mmol/mol）（p=0.006）。
结论
在 GCK-MODY 或 HNF1A-MODY 患者中，分子诊断使约 80%的患者得到了恰当的治疗调整。
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