Coenzyme Q10 treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review
- VernacularTitle:辅酶 Q10治疗 COQ6基因突变致肾病一例并文献复习
- Author:
Qi CAO
1
;
Guomin LI
;
Hong XU
;
Qian SHEN
;
Li SUN
;
Xiaoyan FANG
;
Haimei LIU
;
Wei GUO
;
Yihui ZHAI
;
Bingbing WU
Author Information
1. 复旦大学附属儿科医院肾脏风湿科
- Keywords:
Coenzyme Q10;
Proteinuria;
Nephrotic syndrome;
COQ6 gene
- From:
Chinese Journal of Pediatrics
2017;55(2):135-138
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome , and to evaluate efficacy of CoQ 10 therapy.Method Clinical data of the case with infantile nephrotic syndrome was summarized , including clinical manifestations , laboratory findings and family investigation .The patient received CoQ 10 30 mg/( kg? d ) therapy.Urine protein/creatinine ratio , serum albumin and creatinine were detected to assess the efficacy of the therapy . Result (1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia . Extra-renal manifestations included cardiovascular abnormality , motor and mental retardation and unilateral ptosis.The patient had no consanguinity .A novel homozygous p.R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing , respectively.Family analysis showed that homozygous p.R360W mutation in COQ6 gene was inherited from his parents.Missense p.R360W mutation was damaging by prediction online PolyPhen and SIFT software .After 2 months of CoQ10 complementary therapy , the patient′s urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months.Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up.Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years.(2) There were 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 ( COQ6 ) in 13 individuals from 7 families by homozygosity mapping in the whole world.Each mutation was linked to early-onset SRNS with sensorineural deafness . Renal biopsy revealed FSGS in 7 cases and DMS in 1 case.Other manifestations included ataxia , seizures, facial dysmorphism , nephrolithiasis and growth retardation .Four patients received CoQ 10 supplementation and responded to the treatment .Conclusion Renal disease caused by recessive COQ 6 gene mutation was nephrotic syndrome .The patient benefited from early CoQ 10 complement and reached nephropathy remission .
