LASSO-derived nomogram for early identification of pediatric monogenic lupus  

作　　者：Tian-Yu Zhang Wei Wang Si-Hao Gao Zhong-Xun Yu Wei Wang Yu Zhou Chang-Yan Wang Shan Jian Lin Wang Li-Juan Gou Ji Li Ming-Sheng Ma Hong-Mei Song 

机构地区：[1]Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China

出　　处：《World Journal of Pediatrics》2024年第11期1155-1167,共13页世界儿科杂志（英文版）

基　　金：supported by National Key R&D Program of China(2021YFC2702005);National High Level Hospital Clinical Research Funding(2022-PUMCH-B-079).

摘　　要：Background Monogenic lupus is defined as systemic lupus erythematosus(SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance.However,because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE,it causes a delay in diagnosis and treatment.Currently,there is a lack of early identification models for clinical practitioners to provide early clues for recognition.Our goal was to create a clinical model for the early identification of pediatric monogenic lupus,thereby facilitating early and precise diagnosis and treatment for patients.Methods This retrospective cohort study consisted of 41 cases of monogenic lupus treated at the Department of Pediatrics at Peking Union Medical College Hospital from June 2012 to December 2022.The control group consisted of classical SLE patients recruited at a 1:2 ratio.Patients were randomly divided into a training group and a validation group at a 7:3 ratio.A logistic regression model was established based on the least absolute shrinkage and selection operator to generate the coefficient plot.The predictive ability of the model was evaluated using receiver operator characteristic curves and the area under the curve(AUC)index.Results A total of 41 cases of monogenic lupus patients and 82 cases of classical SLE patients were included.Among the monogenic lupus cases(with a male-to-female ratio of 1:1.05 and ages of onset ranging from birth to 15 years),a total of 18 gene mutations were identified.The variables included in the coefficient plot were age of onset,recurrent infections,intracranial calcifications,growth and developmental delay,abnormal muscle tone,lymphadenopathy/hepatosplenomegaly,and chilblain-like skin rash.Our model demonstrated satisfactory diagnostic performance through internal validation,with an AUC value of 0.97(95% confidence interval=0.92–0.97).Conclusions We summarized and analyzed the clinical characteristics of pediatric monogenic lupus and develo

关 键 词：CHILDREN LUPUS Model MONOGENIC NOMOGRAM Prediction 

分 类 号：R593.24[医药卫生—内科学]