METHODS: We examined pediatric SRNS cases with genetic analysis conducted in our hospital. Cases satisfying all of the following criteria were included: (1) age at onset 1-18 years, (2) serum albumin at onset ≤ 2.5 g/dl, (3) persistent heavy proteinuria, and (4) no complete remission after 4 weeks of steroid monotherapy.
RESULTS: The proportion of detected monogenic variants was 12% (22/185) among all patients. The proportion was only 7% (9/129) in patients with edema at disease onset compared with 38% (9/24) in those without (p < 0.0001). Monogenic variants were rare in patients with acute kidney injury associated with NS (1% (1/11)) or a history of complete remission (4% (2/51)).
CONCLUSIONS: Our study revealed a monogenic cause in 12% of individuals with strictly defined SRNS, a much smaller proportion than previously reported. The presence or absence of edema at the onset was an important factor to distinguish SRNS with monogenic cause from SRNS without. Our results provide further evidence of the SRNS types attributable to monogenic causes.
方法:我们在我院进行了基因分析,检查了小儿SRNS病例。符合以下所有标准的病例包括:(1)发病年龄1-18岁,(2)发病时血清白蛋白≤2.5g/dl,(3)持续性重度蛋白尿,和(4)类固醇单药治疗4周后未完全缓解。
结果:在所有患者中检测到的单基因变异的比例为12%(22/185)。发病时水肿患者的比例仅为7%(9/129),而无水肿患者的比例为38%(9/24)(p<0.0001)。单基因变异在与NS(1%(1/11))或完全缓解史(4%(2/51))相关的急性肾损伤患者中很少见。
结论:我们的研究揭示了12%严格定义SRNS的个体的单基因病因,比例比以前报道的要小得多。发作时是否存在水肿是区分具有单基因原因的SRNS和没有的SRNS的重要因素。我们的结果提供了可归因于单基因原因的SRNS类型的进一步证据。