[Diagnosis and treatment of primary coenzyme Q10 deficiency associated glomerulopathy].

Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

Original Publication: Beijing : Chinese Medical Association, 1950

Ubiquinone*/analogs & derivatives ; Ubiquinone*/deficiency ; Ubiquinone*/therapeutic use ; Ubiquinone*/administration & dosage ; Mitochondrial Diseases*/diagnosis; Humans ; Nephrotic Syndrome/diagnosis ; Nephrotic Syndrome/etiology ; Ataxia/diagnosis ; Ataxia/etiology ; Child ; Podocytes/pathology ; Podocytes/metabolism ; Proteinuria/etiology ; Proteinuria/diagnosis ; Muscle Weakness/etiology ; Muscle Weakness/diagnosis ; Mutation ; Mitochondrial Proteins/genetics ; Protein Kinases

Local Abstract: [Publisher, Chinese] 原发性辅酶Q10缺陷相关肾小球病是COQ2 、 COQ6、COQ8B及PDSS2基因致病性变异所致的表型以肾小球足细胞受累为主的一类原发性线粒体病，可表现为激素耐药肾病综合征或无症状蛋白尿，其中COQ8B是导致中国儿童激素耐药肾病综合征常见的致病基因之一。此类疾病的诊断依赖于基因检测分析，然而分子检测技术的局限性以及诸多致病意义未明的变异限制了此类疾病的精准诊断。病例报道显示该病足细胞线粒体存在增生、肿胀、畸形或嵴异常，然而此类病理改变能否为该病诊断提供线索尚不明确。大剂量辅酶Q10补充可改善COQ2、COQ6及COQ8B基因相关肾小球病的蛋白尿和肾功能。.

1339-63-5 (Ubiquinone)
EJ27X76M46 (coenzyme Q10)
EC 2.7.- (COQ8B protein, human)
1065-31-2 (ubiquinone 6)
0 (Mitochondrial Proteins)
EC 2.7.- (Protein Kinases)

Coenzyme Q10 Deficiency

Date Created: 20241120 Date Completed: 20241128 Latest Revision: 20241210

20241211

10.3760/cma.j.cn112140-20240711-00480

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