Klaassen Ilka, Özgören Bünyamin, Sadowski Carolin E, Möller Kristina, van Husen Michael, Lehnhardt Anja, Timmermann Kirsten, Freudenberg Folke, Helmchen Udo, Oh Jun, Kemper Markus J
Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Pediatr Nephrol. 2015 Sep;30(9):1477-83. doi: 10.1007/s00467-015-3109-3. Epub 2015 Apr 24.
Steroid-resistant nephrotic syndrome (SRNS) is still regarded as a serious disease although treatment with cyclosporine (CSA) has improved outcome. However, the duration of treatment in responders is unclear, and treatment of patients with genetic causes is a matter of debate.
Thirty-six patients with SRNS were studied retrospectively. Median age at presentation was 3.2 (range, 0.06-15.0) and median follow-up 15.5 years (range, 1.8-27.7), respectively; 23 (64%) had focal segmental glomerulosclerosis (FSGS) on biopsy. In 33/36 patients (92%), genetic testing was performed for at least three most common genes known to be mutated in SRNS.
Nineteen patients (53%), especially those with minimal change nephrotic syndrome (MCNS) at initial biopsy (p < 0.002), entered complete remission with CSA monotherapy, including one patient with compound heterozygous NPHS1 and dominant ACTN4 mutation, respectively. Ten patients entered partial remission (28%, all FSGS), including two with NPHS2 mutations. Seven patients (six FSGS, one MCNS) did not respond to treatment. In 15 of 19 responders to CSA, treatment was stopped after a median of 3.1 years (range, 0.5-14) and no further relapses occurred in 11/15 (73%) patients with median follow-up of 9.7 years.
CSA monotherapy is effective in SRNS. Discontinuation of CSA is possible in many patients with complete remission.
尽管环孢素（CSA）治疗已改善了类固醇抵抗型肾病综合征（SRNS）的预后，但该病仍被视为严重疾病。然而，缓解者的治疗持续时间尚不清楚，且针对有遗传病因患者的治疗仍存在争议。
对36例SRNS患者进行回顾性研究。就诊时的中位年龄为3.2岁（范围0.06 - 15.0岁），中位随访时间为15.5年（范围1.8 - 27.7年）；23例（64%）活检显示为局灶节段性肾小球硬化（FSGS）。33/36例患者（92%）针对已知在SRNS中发生突变的至少三个最常见基因进行了基因检测。
19例患者（53%），尤其是初次活检为微小病变型肾病综合征（MCNS）的患者（p < 0.002），通过CSA单药治疗实现完全缓解，其中分别有1例患者存在NPHS1复合杂合突变和ACTN4显性突变。10例患者进入部分缓解（28%，均为FSGS），其中2例有NPHS2突变。7例患者（6例FSGS，1例MCNS）治疗无效。在19例CSA治疗缓解的患者中，15例在中位3.1年（范围0.5 - 14年）后停止治疗，11/15例（73%）患者在中位9.7年的随访中未再复发。结论：CSA单药治疗对SRNS有效。许多完全缓解的患者可以停用CSA。
