Racial and ethnic differences in the incidence and progression of focal segmental glomerulosclerosis in children
Racial and ethnic differences in the incidence and progression of focal segmental glomerulosclerosis in children
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DOI：
10.1053/j.arrt.2003.10.015
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发表时间：
2004-01-01
期刊：
影响因子：
--
通讯作者：
Andreoli, SP
中科院分区：
文献类型：
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作者：
Andreoli, SP
特发性局灶节段性肾小球硬化（FSGS）是儿童和成人肾病综合征的常见病因。大多数患有FSGS的儿童对任何形式的治疗都没有反应，并进展为终末期肾病（ESRD）。FSGS在移植肾中的复发率约为初始移植的三分之一，并且一旦FSGS在早期移植中复发，则在随后的移植中复发的百分比显著更高。因此，FSGS是一种发病率很高的疾病。在过去的几年中，成人和儿童的FSGS发病率似乎在增加，特别是在某些种族群体和民族人群中。最近在成人和儿童患者中的几项研究表明，FSGS的发病率正在增加，特别是在黑人人群中。此外，一些研究还表明，与其他种族群体相比，黑人患者中FSGS进展为ESRD的速度更快。种族和民族背景可能对儿童和成人FSGS的发病率和进展有实质性影响。很可能是特定的基因或基因的组合影响FSGS在种族和民族群体中的不同临床表现。编码nephrin的NPHS1基因的基因突变已被发现导致先天性肾病综合征。编码podocin的NPHS2基因中的遗传突变最近已被证明与隐性形式的类固醇耐药肾病综合征密切相关。编码辅肌动蛋白4的ACTN4基因突变也与家族性肾病综合征有关。一些研究发现ACE多态性在FSGS进展中的作用。未来的研究，以确定多态性影响FSGS的发展，FSGS的进展，和对治疗的反应将大大提高理解的发病机制和管理FSGS。(C)2004年，美国国家肾脏基金会（National Kidney Foundation，Inc.）
Idiopathic focal segmental glomerulosclerosis (FSGS) is a common cause of nephrotic syndrome in pediatric and adult patients. Most children with FSGS do not respond to any form of therapy and progress to end-stage renal disease (ESRD). FSGS reoccurs in the transplanted kidney in approximately one third of initial transplants and in a substantially higher percentage of subsequent transplants once FSGS has recurred in an earlier transplant. Thus, FSGS is a disease with substantial morbidity. Over the past several years, the incidence of FSGS in adults and children appears to be increasing, particularly in certain racial groups and ethnic populations. Several recent studies in adult and pediatric patients suggest that the incidence of FSGS is increasing particularly in the black population. In addition, some studies have also demonstrated a more rapid progression of FSGS to ESRD in black patients compared to other ethnic groups. Racial and ethnic background is likely to have a substantial influence on the incidence and progression of FSGS in children and adults. It is likely that specific genes or a combination of genes influence the different clinical manifestations of FSGS in racial and ethnic groups. Genetic mutations in NPHS1 gene, which encodes nephrin, have been found to cause congenital nephrotic syndrome. Genetic mutations in the NPHS2 gene, which encodes podocin, recently have been shown to be strongly associated with a recessive form of steroid-resistant nephrotic syndrome. Mutations in the ACTN4 gene that encodes actinin 4 has also been associated with familial nephrotic syndrome. A role for ACE polymorphisms in the progression of FSGS has been found in some studies. Future investigations to identify polymorphisms that influence the development of FSGS, the progression of FSGS, and the response to therapy will greatly improve understanding of the pathogenesis and management of FSGS. (C) 2004 by the National Kidney Foundation, Inc.