[Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome].
Steroid-resistant nephrotic syndrome poses a significant clinical challenge. Its pathogenesis has not been fully elucidated. In recent years, numerous studies have shown that podocyte-specific gene mutations may play important roles in the development of steroid-resistant nephrotic syndrome. Among the identified genes mutated in podocytes include NPHS2, NPHS1, WT1, TRPC6, MDR1, PLCE1, LMX1B, and LAMB2. This review aims to summarize the characteristics of these mutated genes in podocytes. The putative role for these podocyte-specific mutated genes in the pathogenesis, diagnosis, treatment and prognosis of steroid-resistant nephrotic syndrome is also discussed.
Department of Pediatrics, Changzhou Traditional Chinese Medicine Hospital Affiliated to Nanjing University of Chinese Medicine, Changzhou, Jiangsu 213003, China. zyywlp@126.com.
Li-Wen
LW
Zhang
Le-Ping
LP
Wang
D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics; D016162:Genes, Wilms Tumor; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D060850:LIM-Homeodomain Proteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000235:genetics; D050199:Podocytes / Q000378:metabolism*; D050052:TRPC Cation Channels / Q000235:genetics; D000074287:TRPC6 Cation Channel; D014157:Transcription Factors / Q000235:genetics
C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D047908:Intracellular Signaling Peptides and Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D050052:TRPC Cation Channels; D000074287:TRPC6 Cation Channel; C117032:TRPC6 protein, human; D014157:Transcription Factors; C113267:nephrin