Nephrotic syndrome associated with coenzyme Q10 deficiency due to coenzyme Q2 gene mutation: a case report
10.3760/cma.j.cn441217-20220610-00619
- VernacularTitle:辅酶Q2基因突变所致辅酶Q10缺乏性肾病综合征1例
- Author:
Daorina BAO
1
;
Hongyu YANG
;
Fang WANG
;
Xujie ZHOU
;
Xin ZHANG
;
Suxia WANG
;
Fude ZHOU
Author Information
1. 北京大学第一医院肾内科 北京大学肾脏病研究所 卫生部肾脏疾病重点实验室慢性肾脏病防治教育部重点实验室（北京大学）中国医学科学院免疫介导肾病诊治创新单元，北京 100034
- Keywords:
Ubiquinone;
Mutation;
Nephrotic syndrome;
Coenzyme Q2;
Coenzyme Q10 deficiency;
Hereditary nephropathy
- From:
Chinese Journal of Nephrology
2023;39(2):138-141
- CountryChina
- Language:Chinese
-
Abstract:
The paper reports a case of coenzyme Q10 deficiency nephrotic syndrome associated with coenzyme Q2 gene mutation and reviews the literature on this topic. The patient presented with hematuria, proteinuria, and a diminution of vision as clinical manifestations. But the proteinuria was not relieved after sufficient doses of glucocorticoids for over 2 months. The patient′s birth history was unremarkable, and his parents were both healthy and not consanguineous. Whole exome sequencing revealed that the patient had a mutation of coenzyme Q2 gene at c.973A>G(p.T325A) and c.517C>T(p.R173C). Combined with renal biopsy pathology, the patient was diagnosed with hereditary nephropathy and started the supplements of coenzyme Q10 after stopping glucocorticoid treatments immediately. After 5 weeks of therapy, the patient′s 24-h urine protein quantification decreased from 6.01 g to 1.53 g.
