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Abstract：
BACKGROUND: Although steroid therapy is a standard of care for nephrotic syndrome treatment, 15-20% of patients do not respond to it. Finding the genetic background is possible in >10% of steroid-resistant nephrotic syndrome (SRNS) cases. Variants in genes encoding nuclear pore complex proteins are a novel cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent studies suggest NUP93 variants to be a significant cause of paediatric onset SRNS. The clinical data on certain variants and disease history are still very limited.
RESULTS: We report the SRNS case of a 12-year-old boy with two detected NUP93 variants, which are pathogenic and possibly pathogenic. The onset of the disease was early and severe. The patient was admitted to the paediatric nephrology department due to nephrotic-range proteinuria and hypoalbuminemia with a long medical history of steroid and non-steroid immunosuppressive treatment. The genetic panel targeting 50 genes, clinically relevant for nephrotic syndrome, was performed. The only gene which was found to be affected by mutations, namely c.2326C>T and c.1162C>T, respectively, was NUP93. Conclusions: NUP93 variants are rarely identified as causes of SRNS. Clinical data are of utmost importance to establish the standard of care for SRNS patients suffering from this genetic disfunction. This is the first case of a heterozygous patient with the c.2326C>T and c.1162C>T variants and confirmed clinical history of the SRNS described so far. Our data suggest the clinical relevance of the c.1162C>T variant.
RESULTS: We report the SRNS case of a 12-year-old boy with two detected NUP93 variants, which are pathogenic and possibly pathogenic. The onset of the disease was early and severe. The patient was admitted to the paediatric nephrology department due to nephrotic-range proteinuria and hypoalbuminemia with a long medical history of steroid and non-steroid immunosuppressive treatment. The genetic panel targeting 50 genes, clinically relevant for nephrotic syndrome, was performed. The only gene which was found to be affected by mutations, namely c.2326C>T and c.1162C>T, respectively, was NUP93. Conclusions: NUP93 variants are rarely identified as causes of SRNS. Clinical data are of utmost importance to establish the standard of care for SRNS patients suffering from this genetic disfunction. This is the first case of a heterozygous patient with the c.2326C>T and c.1162C>T variants and confirmed clinical history of the SRNS described so far. Our data suggest the clinical relevance of the c.1162C>T variant.
摘要：
背景：虽然类固醇治疗是肾病综合征治疗的标准治疗方法，15-20%的患者对此没有反应。在>10％的类固醇抗性肾病综合征（SRNS）病例中，找到遗传背景是可能的。编码核孔复合物蛋白的基因变异是儿科类固醇抗性肾病综合征（SRNS）的新原因。最近的研究表明，NUP93变体是儿科发病SRNS的重要原因。关于某些变异和疾病史的临床数据仍然非常有限。
结果：我们报告了一个12岁男孩的SRNS病例，该男孩具有两个检测到的NUP93变体，它们是致病的，也可能是致病的。该疾病的发作是早期和严重的。该患者因肾病性蛋白尿和低白蛋白血症而入院，并有长期的类固醇和非类固醇免疫抑制治疗病史。针对50个基因的遗传小组，与肾病综合征临床相关，已执行。唯一被发现受突变影响的基因，即c.2326C>T和c.1162C>T，分别,NUP93结论：NUP93变体很少被鉴定为SRNS的原因。临床数据对于建立患有这种遗传功能障碍的SRNS患者的护理标准至关重要。这是迄今为止描述的具有c.2326C>T和c.1162C>T变体的杂合子患者和已证实的SRNS临床病史的第一例。我们的数据表明c.1162C>T变体的临床相关性。
结果：我们报告了一个12岁男孩的SRNS病例，该男孩具有两个检测到的NUP93变体，它们是致病的，也可能是致病的。该疾病的发作是早期和严重的。该患者因肾病性蛋白尿和低白蛋白血症而入院，并有长期的类固醇和非类固醇免疫抑制治疗病史。针对50个基因的遗传小组，与肾病综合征临床相关，已执行。唯一被发现受突变影响的基因，即c.2326C>T和c.1162C>T，分别,NUP93结论：NUP93变体很少被鉴定为SRNS的原因。临床数据对于建立患有这种遗传功能障碍的SRNS患者的护理标准至关重要。这是迄今为止描述的具有c.2326C>T和c.1162C>T变体的杂合子患者和已证实的SRNS临床病史的第一例。我们的数据表明c.1162C>T变体的临床相关性。
