Bockenhauer Detlef, van't Hoff William, Chernin Gil, Heeringa Saskia F, Sebire Neil J
Nephrology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK.
Pediatr Nephrol. 2009 Jul;24(7):1399-401. doi: 10.1007/s00467-009-1135-8. Epub 2009 Feb 11.
Wilms' tumour suppressor gene 1 (WT1) encodes a transcription factor required for normal development of the genitourinary system. In the kidney, mutations in WT1 can cause diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Here, we report on a girl with a mutation in WT1, who developed membranoproliferative glomerulonephritis (MPGN) 3 years after completion of treatment for Wilms' tumour. This finding extends the spectrum of glomerular disease seen with WT1 mutations and could have implications for the screening of children with MPGN.
威尔姆斯肿瘤抑制基因1（WT1）编码一种泌尿生殖系统正常发育所需的转录因子。在肾脏中，WT1突变可导致弥漫性系膜硬化或局灶节段性肾小球硬化。在此，我们报告一名患有WT1突变的女孩，她在完成威尔姆斯肿瘤治疗3年后发生了膜增生性肾小球肾炎（MPGN）。这一发现扩展了WT1突变所见肾小球疾病的范围，可能对MPGN患儿的筛查具有重要意义。
