Clinical features and mutational survey of NPHS 2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation
Clinical features and mutational survey of NPHS 2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation
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DOI：
10.1111/j.1399-3046.2007.00752.x
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发表时间：
2008-05-01
影响因子：
1.3
通讯作者：
Sakano, Takashi
中科院分区：
文献类型：
--
作者：
Furue, Takeki;Hattori, Motoshi;Sakano, Takashi
复发性 FSGS 是肾脏病学领域的一个重大挑战。为了阐明 NPHS2 缺陷在 FSGS 复发发病机制中的作用，我们对 11 名有或没有移植后复发的日本 FSGS 儿科患者的 NPHS2 的所有 8 个外显子进行了测序。所有患者均具有经活检证实的原发性 FSGS，无肾脏疾病或近亲家族史，对类固醇有抵抗力，并接受了活体肾移植。平均发病年龄为 5.0 +/- 3.1 岁，肾移植时平均年龄为 10.4 +/- 4.1 岁。使用聚合酶链反应和直接测序进行 NPHS2 突变分析。我们在 11 名患者中的 7 名中发现了丙氨酸 318（GCC 至 GCI）的同义 T/C 多态性，但没有发现其他致病性 NPHS2 突变。 7 名患者移植后立即复发，其余 4 名患者 3.2-5.8 年未复发。复发和非复发患者的发病年龄以及发病至 ESRD 的时间间隔没有差异。总之，我们在有或没有移植后复发的日本儿童 FSGS 患者中没有检测到致病性 NPHS2 突变。需要进一步研究其他基因的参与，以更好地了解复发性 FSGS。
Recurrent FSGS is a major challenge in the field of nephrology. To clarify the role of NPHS2 defects in the pathogenesis of FSGS recurrence, we sequenced all eight exons of NPHS2 in 11 Japanese pediatric FSGS patients with or without post-transplant recurrence. All patients had biopsy-proven primary FSGS, had no family history of renal diseases or consanguinity, were steroid-resistant, and received living-related renal transplantation. The mean age at onset was 5.0 +/- 3.1 yr and mean age at renal transplantation was 10.4 +/- 4.1 yr. Mutational analysis of NPHS2 was performed using polymerase chain reaction and direct sequencing. We found a synonymous T/C polymorphism at alanine 318 (GCC to GCI) in seven of 11 patients but no other causative NPHS2 mutations. FSGS recurred immediately after transplant in seven patients, while the remaining four patients had no recurrence for 3.2-5.8 yr. There were no differences between recurrent and non-recurrent patients in the onset age and the interval from onset to ESRD. In conclusion, we detected no causative NPHS2 mutations in Japanese pediatric FSGS patients with or without post-transplant recurrence. Further studies on the involvement of other genes are required to better understand recurrent FSGS.