Relan Shilpi, Alarcon Guido, Guffey Danielle, Minard Charles G, Fang Mary E, Timmons Kelly, Sonabend Rona Y, Tosur Mustafa, Redondo Maria J, Posey Jennifer E
Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Dan L Duncan Institute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
J Clin Endocrinol Metab. 2025 Jun 24. doi: 10.1210/clinem/dgaf360.
Current practice guidelines recommend considering a diagnosis of maturity-onset diabetes of the young (MODY) in patients with diabetes with an affected parent but without typical features of type 1 diabetes (T1D) or type 2 diabetes (T2D).
To test if these criteria apply to a real-world cohort of racially/ethnically diverse children with diabetes.
We performed a retrospective case review of electronic medical records (EMR) of youth diagnosed with MODY in a large academic pediatric hospital in Southwestern U.S. Cases were ascertained based on the identification of a molecular diagnosis of MODY.
We studied 50 genetically confirmed cases of MODY: 60% GCK-MODY (MODY2, n=30), 16% HNF1A-MODY (MODY3, n=8), 18% HNF1B-MODY (MODY5, n=9), 4% HNF4A-MODY (MODY1, n=2), and 2% with a dual molecular diagnosis resulting from variants in more than one MODY gene (n=1). Race/ethnicity other than non-Hispanic White, lack of parental diabetes history, obesity/overweight at diagnosis, dyslipidemia and/or hypertension and acanthosis nigricans documented on physical exam were observed, respectively, in 52% (n=26), 24% (n=12), 22.2% (n =11), 30% (n=15), and 12% (n=6) of MODY cases. Furthermore, islet antibody positivity was observed in 8% of the cases GCK-MODY (n=4). The mean hemoglobin A1c at diabetes diagnosis was higher in patients with HNF4A-MODY (7.0%), HNF1A-MODY (6.7%), and HNF1B-MODY (6.7%), than in those with GCK-MODY (6.1%, p=0.005). Four (13.3%) GCK-MODY patients had persistent proteinuria of undetermined cause.
The current guidelines to consider a diagnosis of MODY may not apply to a racially/ethnically diverse U.S. population of children with diabetes.
当前的实践指南建议，对于父母患有糖尿病但无1型糖尿病（T1D）或2型糖尿病（T2D）典型特征的糖尿病患者，应考虑诊断为青年发病的成年型糖尿病（MODY）。
检验这些标准是否适用于种族/民族多样化的糖尿病儿童真实队列。
我们对美国西南部一家大型学术儿科医院诊断为MODY的青少年电子病历（EMR）进行了回顾性病例审查。病例通过确定MODY的分子诊断来确定。
我们研究了50例基因确诊的MODY病例：60%为GCK-MODY（MODY2，n = 30），16%为HNF1A-MODY（MODY3，n = 8），18%为HNF1B-MODY（MODY5，n = 9），4%为HNF4A-MODY（MODY1，n = 2），2%因多个MODY基因变异导致双重分子诊断（n = 1）。在MODY病例中，分别有52%（n = 26）、24%（n = 12）、22.2%（n = 11）、30%（n = 15）和12%（n = 6）观察到非西班牙裔白人以外的种族/民族、缺乏父母糖尿病病史、诊断时肥胖/超重、血脂异常和/或高血压以及体检记录的黑棘皮病。此外，在8%的GCK-MODY病例（n = 4）中观察到胰岛抗体阳性。HNF4A-MODY（7.0%）、HNF1A-MODY（6.7%）和HNF1B-MODY（6.7%）患者在糖尿病诊断时的平均糖化血红蛋白水平高于GCK-MODY患者（6.1%，p = 0.005）。四名（13.3%）GCK-MODY患者出现原因不明的持续性蛋白尿。
当前考虑诊断MODY的指南可能不适用于美国种族/民族多样化的糖尿病儿童人群。
