原发性辅酶Q_(10)缺乏相关肾病的分子遗传学进展

Advances in molecular genetics of nephropathy associated with primary coenzyme Q_(10) deficiency

原发性辅酶Q_(10)缺乏综合征是一种罕见的、由线粒体功能障碍引起的临床和遗传异质性疾病,为常染色体隐性遗传病,儿童期发病为主;主要累及神经系统、骨骼肌、肾脏和心脏。当原发性辅酶Q_(10)缺乏综合征累及肾脏时,典型特征为激素耐药性肾病综合征(SRNS),肾脏病理多为局灶节段性肾小球硬化(FSGS)。早期辅酶Q_(10)补充剂治疗,部分疗效显著,无需应用激素及免疫抑制剂,因此早期发现及治疗有重要意义。目前报道的与辅酶Q_(10)缺乏综合征所致肾病有关的致病基因包括COQ 2、COQ 6、PDSS 1、PDSS 2和COQ 8B/ADCK 4。

Primary coenzyme Q_(10)deficiency is a rare clinical and genetically heterogeneous disorder caused by mitochondrial dysfunction.It is an autosomal recessive genetic disease,mainly occurred in childhood and involving nervous system,skeletal muscle,kidney and heart.When the kidney is involved,the typical feature is steroid-resistant nephrotic syndrome(SRNS).The pathology of kidney is mostly focal segmental glomerulosclerosis(FSGS).For some children,early coenzyme Q_(10) supplementation has a significant therapeutic effect,without the use of hormones and immunosuppressants.Therefore,early detection and treatment are of great significance.At present,COQ 2,COQ 6,PDSS 1,PDSS 2 and COQ 8B/ADCK 4 have been reported to be associated with nephropathy induced by coenzyme Q_(10) deficiency.This article reviewed this content.