遗传性肾病综合征指由于肾小球滤过屏障组成蛋白的编码基因或其他相关基因突变所致的肾病综合征,临床绝大多数表现为激素耐药型肾病综合征。近年来,随着分子生物学技术的飞速发展,多个与遗传性肾病综合征有关的基因被克隆、定位,这使得对多种遗传性肾病综合征进行基因诊断成为可能。而随着对遗传性肾脏疾病认识的深入和基因诊断技术的广泛开展,对此类疾病患者及家系成员提供遗传咨询也越来越有必要性,包括产前基因诊断。 Hereditary nephrotic syndrome refers to nephrotic syndrome due to mutations in the gene encoding glomerular filtration barrier protein or other related genes, the vast majority of clinical manifestations of steroid-resistant nephrotic syndrome. In recent years, with the rapid development of molecular biology techniques, many genes related to hereditary nephrotic syndrome have been cloned and localized, which makes it possible to diagnose many hereditary nephrotic syndromes. With the deepening of understanding of hereditary kidney diseases and extensive genetic diagnosis techniques, it is also increasingly necessary to provide genetic counseling to patients with such diseases and their family members, including prenatal genetic diagnosis.