遗传性肾病综合征的基因诊断

摘要

近年来,遗传性肾病综合征相关基因的陆续发现或为肾脏病学领域的一个突破性进展,目前约有18个与遗传性肾病综合征有关的基因已经被克隆、定位,相信将会有更多的基因陆续被发现,这些基因是大多数遗传性肾病综合征的病因.遗传性肾病综合征的分子生物学进展有助于该病诊断和治疗.遗传性肾病综合征的治疗方案复杂,常规治疗方案无效(包括激素和免疫抑制剂),因此很有必要理解并明确该类疾病的定义、分子遗传学分类、临床特征以及肾脏病理等相关进展.该文综述了遗传性肾病综合征的常见分子生物学、临床及病理特征,以期建立遗传性肾病综合征的基因诊断思路.%In recent years, discovery of genes involved in genetic forms of nephrotic syndrome represents a breakthrough in nephrology. To date, 18 genes have been characterized and several new loci have been identified, with a potential for discovery of new genes. Overall, these genes account for a large fraction of hereditary forms of nephrotic syndrome. These advances increase diagnostic and therapeutic potentials, but also add higher complexity to the scenario, requiring clear definitions of clinical, histopathological and molecular signatures. In general, genetic forms of nephrotic syndrome are resistant to common therapeutic approaches ( that include steroids and calcineurin inhibitors). In this review, clinical, histological and molecular aspects of various forms of hereditary nephrotic syndrome have been reviewed in an attempt to propose an approach for appropriate mutational screening.