Universitäts-Kinderklinik Innsbruck, Anichstrasse 35, Innsbruck, Austria.
J Am Soc Nephrol. 2011 Mar;22(3):579-85. doi: 10.1681/ASN.2010010029. Epub 2011 Feb 25.
Steroid-resistant focal segmental glomerulosclerosis (FSGS) often recurs after renal transplantation. In this international survey, we sought to identify genotype-phenotype correlations of recurrent FSGS. We surveyed 83 patients with childhood-onset primary FSGS who received at least one renal allograft and analyzed 53 of these patients for NPHS2 mutations. The mean age at diagnosis was 6.7 years, and the mean age at first renal transplantation was 13 years. FSGS recurred in 30 patients (36%) after a median of 13 days (range, 1.5 to 152 days). Twenty-three patients received a second kidney transplant, and FSGS recurred in 11 (48%) after a median of 16 days (range, 2.7 to 66 days). None of the 11 patients with homozygous or compound heterozygous NPHS2 mutations developed recurrent FSGS compared with 45% of patients without mutations. These data suggest that genetic testing for pathogenic mutations may be important for prognosis and treatment of FSGS both before and after transplantation.
类固醇抵抗型局灶节段性肾小球硬化症（FSGS）在肾移植后常复发。在这项国际调查中，我们试图确定复发 FSGS 的基因型-表型相关性。我们调查了 83 名患有儿童期原发性 FSGS 的患者，他们至少接受过一次肾移植，并对其中的 53 名患者进行了 NPHS2 突变分析。诊断时的平均年龄为 6.7 岁，首次肾移植的平均年龄为 13 岁。30 名患者（36%）在中位数为 13 天（范围为 1.5 至 152 天）后复发 FSGS。23 名患者接受了第二次肾移植，11 名患者（48%）在中位数为 16 天（范围为 2.7 至 66 天）后复发 FSGS。与无突变的患者相比，没有携带 NPHS2 纯合或复合杂合突变的 11 名患者中，无一例出现 FSGS 复发。这些数据表明，在移植前后，针对致病突变的基因检测可能对 FSGS 的预后和治疗都很重要。
