| Objective: To summarized the clinical manifestations,results of laboratory examinations,renal pathology results and gene sequencing of 4 children with coenzyme Q nephropathy,in order to improve the understanding of the disease,to achieve early diagnosis and guide clinical treatment.Method: 4 cases with coenzyme Q nephropathy were selected,the method of retrospective analysis was used,the clinical manifestations,physical examination,results of routine laboratory examination were collected,renal pathology results,gene sequencing of the children and their parents were performed and the treatment effect of early oral coenzyme Q10 were analyzed.Results: Case 1 was a 10-year-old boy who was admitted to hospital due to "abnormal urine test for more than 1 month".Urine analysis showed urine protein 3+,urine protein quantification 61mg/(kg·24h),blood albumin 31.38g/L,blood cholesterol4.60mmol/L;perfection of renal pathological biopsy was consistent with focal segmental glomerulosclerosis;Gene sequencing showed pure heterozygous mutations in the ADCK4 gene c.737G>A point mutation,which was a pathogenic gene.After received perindopril and traditional Chinese medicine treatment for more than 2 months,the patient’s urine protein was still 3+.After gene diagnosis,the patient was treated with high-dose coenzyme Q10.After 7 months of follow-up observation,the random urine protein was reduced to 1+,and the renal function was not impaired by continuous monitoring.Case 2 was a 1 year and 10 months old boy who was admitted to the hospital due to "double eyelid edema for one week".Urine analysis showed urine protein 3+,randomized urine protein/creatinine 15mg/mg,serum albumin 19.9g/L,and blood cholesterol 10.58mmol/L.After received adequate prednisolone induction remission treatment for 17 days,the urine protein turned negative for 4 days,and then the urine protein recovered and remained at 1+.Gene sequencing showed mixed heterozygous mutations in the ADCK4 gene,which were c.1035+8C> A point mutation(inherited from his father)and c.826 G G>C point mutation(inherited from his mother).Both were pathogenic gene mutations,which were first reported in steroid-resistant nephrotic syndrome.After gene diagnosis,the patient was treated with high doses of coenzyme Q10,gradually to the hormone decrement,follow-up observation was conducted for nearly 5 months,children with edema faded,back to normal blood albumin levels,multiple random urine tests showed that urine protein fluctuated in-～+-,continuous monitoring of renal function without damage.Case 3 was a 10-month old boy who was admitted to the hospital due to "eyelid edema for more than 4 weeks".Multiple urine analysis: urine protein 3+,randomized urine protein/creatinine 12mg/mg,serum albumin 10.8g/L and blood cholesterol8.57mmol/L.After received adequate prednisolone induction remission treatment for more than 4 weeks,the urine protein still fluctuated in the range of 3+～4+.Gene sequencing showed mixed heterozygous mutations in the COQ2 gene,which were c.973A>G point mutation(inherited from his mother)and c.518G>A point mutation(inherited from his father).Both were pathogenic gene mutations.Among them,c.518G>A heterozygous mutation was first reported in steroid-resistant nephrotic syndrome.After gene diagnosis,small dose of coenzyme Q10 was added and hormone dosage was gradually reduced.Follow-up observation was carried out for nearly 7months,the edema symptoms of the child subsided,and the serum albumin level returned to the normal level.Repeated random urine analysis showed that urinary protein 1+～2+,and no renal function damage was founded.Case 4 was a 1-year-old boy who was admitted to hospital due to "eyelid edema for27 days".Multiple urine analysis showed that protein 4+.Blood albumin 21g/L,blood cholesterol 10.79mmol/L.After more than 20 days of methylprednisolone induction and albumin preparation was repeatedly infused,the edema of the child was progressively increased,urine volume progressively decreased,and dyspnea occurred.At the request of his family,he was transferred to a superior hospital for diagnosis and treatment,and died of respiratory failure.Gene sequencing showed mixed heterozygous mutations in the COQ2 gene,c.973(Exon6)A > G(inherited from his mother)and c.912+1(IVS5)del G(inherited from his father).Both were pathogenic gene mutations.Among them,c.973(Exon6)A > G heterozygous mutation was first reported in steroid-resistant nephrotic syndrome.No coenzyme Q10 therapy was given.Conclusion:(1)The Coenzyme Q Nephropathy has an early onset,presented typical nephrotic syndrome or nephrotic syndrome-like clinical features,and resistanced with hormone.The pathological changes of renal puncture were non-minor lesions(most conform to FSGS).(2)Pathogenic mutations(homozygous or compound heterozygous)of ADCK4 or COQ2 were found by genetic testing,which had diagnostic value.Complex heterozygous mutations in ADCK4 gene c.826 G > C/ c.1035+8C > A,COQ2 gene c.912+1(IVS5)del G and COQ2 gene C.518G>A were reported was first reported in steroid-resistant nephrotic syndrome.(3)Early oral coenzyme Q10 can reduce proteinuria,slow disease progression. |
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