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MODY计算器在35岁之前被诊断为糖尿病的非白种人、混血人群中的表现。

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.

作者信息

Santomauro Augusto Cezar, Magalhães Áurea Luiza Fernandes, Motta Flávia Tedesco, de Santana Lucas Santos, Franco Pedro Campos, de Freitas Silvia Maria, Sanchez Jeniffer Johana Duarte, Costa-Riquetto Aline Dantas, Teles Milena G

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), São Paulo, SP, 01246-903, Brazil.

Department of Statistics and Applied Mathematics, Postgraduate Program in Modeling and Quantitative Methods, Science Center, Pici Campus, Federal University of Ceará (UFC), Fortaleza, CE, 60440-900, Brazil.

出版信息

Diabetol Metab Syndr. 2023 Feb 6;15(1):15. doi: 10.1186/s13098-023-00985-3.

DOI:10.1186/s13098-023-00985-3
PMID:36747290
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9900997/
Abstract

BACKGROUND

A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age.

METHODS

The electronic records of 391 individuals were reviewed in 2020 at the diabetes clinic of a quaternary hospital in São Paulo were analyzed: 231 with type 1 DM (T1DM), 46 with type 2 (T2DM) and 114 with MODY. The MODY calculator was applied to the three groups. A receiver operating characteristic curve was calculated to obtain cut-off points for this population.

RESULTS

The principal differences between the MODY and the T1DM and T2DM groups were body mass index, a positive family history of diabetes and mean HbA1c level. Age at diagnosis in the MODY group was only significantly different compared to the T2DM group. Specificity and sensitivity were good for the cut-off points of 40%, 50% and 60%, with the accuracy of the model for any of these cut-off points being > 95%.

CONCLUSION

The capacity of the calculator to identify Brazilian patients with MODY was good. Values ≥ 60% proved useful for selecting candidates for MODY genetic testing, with good sensitivity and specificity.

摘要

背景

一种青少年发病的成年型糖尿病(MODY)计算器已被描述并在欧洲白种人中验证其用途。本研究评估了其在35岁之前被诊断为糖尿病(DM)的巴西人中的表现。

方法

2020年对圣保罗一家四级医院糖尿病诊所的391例患者的电子记录进行了回顾分析:231例1型糖尿病(T1DM)患者,46例2型糖尿病(T2DM)患者和114例MODY患者。将MODY计算器应用于这三组。计算受试者工作特征曲线以获得该人群的截断点。

结果

MODY组与T1DM组和T2DM组之间的主要差异在于体重指数、糖尿病家族史阳性和平均糖化血红蛋白水平。MODY组的诊断年龄仅与T2DM组有显著差异。对于40%、50%和60%的截断点,特异性和敏感性良好,该模型在任何这些截断点的准确性均>95%。

结论

该计算器识别巴西MODY患者的能力良好。≥60%的值被证明有助于选择MODY基因检测的候选者,具有良好的敏感性和特异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/7939b17d1679/13098_2023_985_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/7aaec870b4aa/13098_2023_985_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/8d6a0a4b4e0b/13098_2023_985_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/506cf88aa367/13098_2023_985_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/7939b17d1679/13098_2023_985_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/7aaec870b4aa/13098_2023_985_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/8d6a0a4b4e0b/13098_2023_985_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/506cf88aa367/13098_2023_985_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/812e/9900997/7939b17d1679/13098_2023_985_Fig4_HTML.jpg

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