We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment.
Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy.
In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.
我们报告了来自两个家庭的c.437G→A的四名新患者(第长期辅酶Q10治疗后,COQ2中的Ser146Asn)突变和两名患者的预后。
两个家庭出现呕吐的索引病例,肾病范围蛋白尿,和糖尿病在婴儿早期。这些患者被诊断为辅酶Q10缺乏症,并在诊断后不久死亡。指标病例的兄弟姐妹后来出现新生儿糖尿病和蛋白尿,并在生命的第一天被诊断出。立即开始辅酶Q10处理。兄弟姐妹对辅酶Q10治疗的反应显着,葡萄糖和蛋白尿水平恢复正常,但是他们在生命三个月后开始出现难治性局灶性阵挛性癫痫发作,并发展为脑病。
在我们患有辅酶Q10缺乏症的队列中,尽管糖尿病和肾病综合征初步恢复,但口服辅酶Q10治疗并未改善神经系统受累.