Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody-mediated necrotizing myopathy in 10 children: clinical features and treatment outcomes
10.3760/cma.j.cn141217-20250425-00128
- VernacularTitle:儿童抗3-羟基-3-甲基戊二酰辅酶A还原酶抗体介导坏死性肌病10例临床特征与治疗转归
- Author:
Qing WU
1
;
Qianying LYU
;
Haimei LIU
;
Wanzhen GUAN
;
Yinyu GONG
;
Yifan LI
;
Qiaoqian ZENG
;
Xiaomei ZHANG
;
Qijiao WEI
;
Ling YANG
;
Guomin LI
;
Xihua LI
;
Lei ZHAO
;
Li SUN
Author Information
1. 江南大学附属儿童医院肾脏风湿免疫科，无锡 214023
- Publication Type:Journal Article
- Keywords:
Child;
Hydroxy-methylglutaryl CoA reductases;
Immune-mediated necrotizing myopathy;
Myositis-specific antibodies;
Muscle pathology
- From:
Chinese Journal of Rheumatology
2025;29(7):575-582
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and treatment outcomes of children with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibody-mediated necrotizing myopathy, and to explore early identification and management strategies to provide reference for clinical diagnosis and treatment.Methods:A retrospective analysis was conducted on the clinical data and treatment outcomes of 10 pediatric patients with anti-HMGCR antibody-mediated necrotizing myopathy admitted to the Department of Rheumatology, Children′s Hospital of Fudan University from December 2020 to December 2024. Statistical description was performed using SPSS 22.0.Results:Among the 10 patients, the male-to-female ratio was 1:4, the age of onset was (7.2±4.0) years, and the disease duration at diagnosis was (22.2±19.6) months. None had a history of statin exposure. Six patients presented with muscle weakness, and4 were diagnosed due to asymptomatic elevation of creatine kinase (CK); 4 had dermatomyositis-like rashes. All patients showed significantly elevated CK levels [median 3 291(1 969, 8 776)U/L] and underwent muscle biopsy. Histopathological findings revealed myofiber degeneration, necrosis, and regeneration in all cases, with inflammatory infiltration in 9 cases, MHC-Ⅰ positivity in all, and C5b-9 positivity in 9 cases. The median follow-up duration was (15.7±6.3) months. At the last follow-up, muscle strength was normal or nearly normal, and the CK median value had decreased to 977.5 (211.0, 3 536.0) U/L.Conclusion:For patients with suspected idiopathic inflammatory myopathy and significantly elevated CK, muscle-specific antibody testing-including anti-HMGCR-and muscle biopsy should be performed promptly regardless of the presence of skin rash, to ensure accurate diagnosis and guide treatment, thereby avoiding misdiagnosis or missed diagnosis.
