Clinical and genetic analysis of 3 children with mitochondrial disease-related primary adrenal insufficiency
10.3760/cma.j.cn101070-20241030-00699
- VernacularTitle:线粒体病相关原发性肾上腺功能减退症3例临床与遗传分析
- Author:
Cuili LIANG
1
;
Xiaodan CHEN
1
;
Duan LI
1
;
Huifen MEI
1
;
Ruidan ZHENG
1
;
Minyan JIANG
1
;
Yunting LIN
1
;
Li LIU
1
;
Wen ZHANG
1
Author Information
1. 广州医科大学附属妇女儿童医疗中心遗传与内分泌科，广州 510623
- Publication Type:Journal Article
- Keywords:
Child;
Mitochondrial disease;
Adrenal insufficiency;
Genetics
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(11):861-864
- CountryChina
- Language:Chinese
-
Abstract:
This study analyzed the clinical and laboratory data of 3 children diagnosed with mitochondrial disease-associated primary adrenal insufficiency (PAI) at the Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from October 2018 to November 2023.All patients were normal at birth but gradually developed symptoms and were diagnosed with PAI between the ages of 1 year and 1 month and 7 years and 3 months.The children presented typical clinical symptoms of PAI, including skin and mucosal hyperpigmentation (3 cases), electrolyte disturbances (3 cases), and hypoglycemia (2 cases), as well as multisystem abnormalities related to mitochondrial disease, including recurrent infections, growth retardation, cachexia, and hyperlactatemia.Genetic testing revealed significant single deletions in mitochondrial DNA in all patients: Patient 1: m.11219_15954del, Patient 2: m.8483_13459del, and Patient 3: m.8649_16084del.Treatment with Hydrocortisone acetate replacement therapy improved the electrolyte disturbances and hypoglycemia, but issues with recurrent infections, growth retardation, and cachexia persisted.This study suggests that in clinical practice, the possibility of mitochondrial disease should be highly suspected when PAI patients present with multisystem abnormalities, especially in conjunction with hyperlactatemia.
