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首页> 外文期刊>BMC Medical Genetics >A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
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A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

机译：伴随COQ2和ARSB基因突变的近亲结婚导致的婴儿类固醇耐药性肾病综合征：病例报告

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Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly progress to chronic kidney disease (CKD) and end-stage kidney disease (ESRD). Genetic research is of great significance for diagnosis and treatment. More than 39 recessive or dominant genes have been found to cause human SRNS, including COQ2. COQ2 gene mutations not only cause primary coenzyme Q10 deficiency but also cause SRNS without extrarenal manifestations. The concept of COQ2 nephropathy has been proposed for a long time. Mutations in the COQ2 gene have rarely been reported. Worldwide, only 5 cases involving 4 families have been reported. We present the case of a 6-month-old girl with steroid-resistant glomerulopathy due to a COQ2 defect with no additional systemic symptoms. The patient was identified as a homozygote for the c.832?T??C (p. Cys278Arg) missense mutation and a single base homozygous mutation in ARSB gene in c.1213?+?1G??A. The father and mother were heterozygous mutation carriers in both COQ2 and ARSB, and her healthy sister was only a heterozygous mutation carrier in COQ2. In this case, hormone therapy was ineffective, and progressive deterioration of renal function occurred within 1?week after onset, leading to acute renal failure and eventual death. We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832?T??c (p.csc 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.
机译：类固醇抵抗性肾病综合征（SRNS）的治疗仍然是儿科医生的挑战。 SRNS占儿童期肾病综合征（NS）病例的10％至20％。患有SRNS的患者绝大多数会发展为慢性肾脏疾病（CKD）和终末期肾脏疾病（ESRD）。遗传研究对诊断和治疗具有重要意义。已经发现超过39个隐性或显性基因可导致人类SRNS，包括COQ2。 COQ2基因突变不仅会导致原发性辅酶Q10缺乏症，而且还会导致无肾外表现的SRNS。提出COQ2肾病的概念由来已久。很少有人报道过COQ2基因的突变。在全球范围内，仅报道了5起涉及4个家庭的病例。我们介绍了一个因COQ2缺陷而没有其他全身症状的6个月大女孩患有类固醇耐药性肾小球病的病例。该患者被鉴定为c.832ΔTα＞ΔC（p.Cys278Arg）错义突变的纯合子和c.1213Δ+Δ1GΔ＞ΔA的ARSB基因的单碱基纯合突变。父亲和母亲都是COQ2和ARSB中的杂合突变携带者，而她的健康姐姐只是COQ2中的杂合突变携带者。在这种情况下，激素治疗无效，发病后1周内肾功能逐渐恶化，导致急性肾衰竭并最终死亡。我们报告了一个血亲关系已婚的家庭，有COQ2和ARSB双突变体。由COQ2基因突变引起的肾脏疾病可表现为SRNS，预后较差。 C.832→T→＞ c（p.csc 278arg）是一个新的突变位点。对患有类固醇抵抗性肾病综合征的儿童，尤其是婴儿期的儿童，进行遗传评估非常重要。有明确家族史的家庭应接受遗传咨询和产前检查，没有家族表型的儿童也应尽早接受基因筛查。

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