Alarcon Guido, Nguyen Anh, Jones Angus, Shields Beverley, Redondo Maria J, Tosur Mustafa
Department of Pediatrics, The Division of Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Exeter Centre of Excellence in Diabetes (EXCEED), University of Exeter Medical School, Exeter, UK.
J Clin Endocrinol Metab. 2024 Nov 4. doi: 10.1210/clinem/dgae770.
The applicability of the MODY risk calculator (Shields et al) to non- White European populations remains unknown.
We aimed to test its real-world application in Hispanic youth.
We conducted a retrospective chart review of Hispanic youth (<23 years) with diabetes (n=2033) in a large pediatric tertiary care center in the U.S. We calculated MODY probability for all subjects, splitting them into two cohorts based on the original model: Individuals who were started on insulin within 6 months of diabetes diagnosis (Cohort 1) and those who were not (Cohort 2).
Cohort 1 consisted of 1566 individuals (median age [25p, 75p]: 16 [13, 19] years, 49% female), while Cohort 2 comprised 467 youth (median age [25p, 75p]: 17 [15, 20] years, 62% female). The mean MODY probability was 5.9% and 61.9% in Cohort 1 and Cohort 2, respectively. The mean probability for both cohorts combined was 18.8% suggesting an expected 382 individuals with MODY, which is much higher than previous estimations (1-5%; i.e. 20-102 individuals in this cohort). A total of 18 individuals tested positive for MODY among the limited number of individuals tested based on clinical suspicion and genetic testing availability (n=44 out of 2033 tested, [2.2% of overall cohort]).
The MODY risk calculator likely overestimates the probability of MODY in Hispanic youth, largely driven by an overestimation in those not early-insulin treated (predominantly young-onset type 2 diabetes). The calculator needs updating to improve its applicability in this population. In addition, further research to help better identify MODY in Hispanic youth.
MODY风险计算器(希尔兹等人)在非白人欧洲人群中的适用性尚不清楚。
我们旨在测试其在西班牙裔青少年中的实际应用情况。
我们对美国一家大型儿科三级护理中心的2033名患有糖尿病的西班牙裔青少年(年龄<23岁)进行了回顾性病历审查。我们计算了所有受试者的MODY概率,并根据原始模型将他们分为两个队列:糖尿病诊断后6个月内开始使用胰岛素的个体(队列1)和未使用胰岛素的个体(队列2)。
队列1由1566名个体组成(年龄中位数[第25百分位数,第75百分位数]:16[13,19]岁,49%为女性),而队列2包括467名青少年(年龄中位数[第25百分位数,第75百分位数]:17[15,20]岁,62%为女性)。队列1和队列2的平均MODY概率分别为5.9%和61.9%。两个队列合并后的平均概率为18.8%,表明预计有382名个体患有MODY,这远高于先前的估计(1 - 5%;即该队列中有20 - 102名个体)。在基于临床怀疑和基因检测可用性进行检测的有限数量个体中(2033名受试者中有44名接受检测,占总队列的2.2%),共有18名个体MODY检测呈阳性。
MODY风险计算器可能高估了西班牙裔青少年患MODY的概率,这在很大程度上是由于对未早期接受胰岛素治疗的个体(主要是青年发病型2型糖尿病)的高估所致。该计算器需要更新以提高其在该人群中的适用性。此外,需要进一步开展研究以更好地识别西班牙裔青少年中的MODY。