■先天性肾病综合征(CNS)是一种以水肿为特征的严重肾脏疾病,大量蛋白尿,和低白蛋白血症表现在子宫内或出生后三个月内。中枢神经系统影响每10万名儿童1-3名,主要与遗传变异有关,偶尔与感染有关。遗传分析是诊断的一线方法。在欧洲人群中发现了最常见的创始人变体,通常导致1-2岁的终末期肾病。
■女性足月新生儿,没有肾脏疾病的产前迹象,由于支气管阻塞,在2个月大的时候住进了拉帕努伊(东部岛)医院。她发烧,少尿,水肿,尿蛋白肌酐比值(UPCR)433.33和低白蛋白血症(0.9g/dL)。中枢神经系统诊断后,她被转移到智利大陆医院。病毒筛查在血液和尿液中均检测到巨细胞病毒(CMV)阳性。肾活检显示间质性肾炎和弥漫性足细胞损伤,组织PCR结果CMV阴性。对父母的采访显示出血缘关系,暗示遗传性中枢神经系统。基因分析确定了毛利人创始人的变种,NPHS1c.2131C>A(p。R711S),纯合子。患者接受白蛋白输注和抗病毒治疗,她5个月大的时候就出院了,UPCR28.55,白蛋白2.5g/dL证明了实验室参数的改善,和胆固醇190毫克/分升。随后的临床监测是通过虚拟和亲自咨询进行的。在她4岁2个月大的最后一次随访中,她提供了UPCR16.1,白蛋白3.3g/dl和胆固醇220mg/dL,维持正常的肾功能和足够的生长。
■据我们所知,这是智利首例CNS患者携带NPHS1变异体并延长肾脏生存期.正如毛利人所描述的那样,与经典NPHS1患者相比,患者的临床病程较轻.在与新西兰人口相关的中枢神经系统患者中对毛利人创始人变体进行基因检测,可能会影响管理决策,并可能阻止肾切除术的需要。
UNASSIGNED: Congenital nephrotic syndrome (CNS) is a severe kidney disorder characterized by edema, massive proteinuria, and hypoalbuminemia that manifests in utero or within three months after birth. CNS affects 1-3 per 100,000 children, primarily associated with genetic variants and occasionally with infections. Genetic analysis is the first-line method for diagnosis. The most common founder variants have been identified in European populations, often resulting in end-stage kidney disease by 1-2 years of age.
UNASSIGNED: A female full-term neonate, without prenatal signs of kidney disease, was admitted to Rapa Nui (Eastern Island) Hospital at the age of 2 months due to bronchial obstruction. She presented fever, oliguria, edema, urine protein-to-creatinine ratio (UPCR) 433.33, and hypoalbuminemia (0.9 g/dL). She was transferred to a mainland Chilean hospital following CNS diagnosis. Viral screening detected cytomegalovirus (CMV) positivity in both blood and urine. A kidney biopsy revealed interstitial nephritis and diffuse podocyte damage and the tissue PCR resulted negative for CMV. Interviews with the parents revealed consanguinity, suggestive of hereditary CNS. Genetic analysis identified the Maori founder variant,
NPHS1 c.2131C>A (p.R711S), in homozygosis. The patient received albumin infusions and antiviral therapy, being discharged when she was 5 months old, with improved laboratory parameters evidenced by UPCR 28.55, albumin 2.5 g/dL, and cholesterol 190 mg/dL. Subsequent clinical monitoring was conducted through virtual and in-person consultations. At her last follow-up at 4 years 2 months old, she presented UPCR 16.1, albumin 3.3 g/dl and cholesterol 220 mg/dL, maintaining normal kidney function and adequate growth.
UNASSIGNED: To our knowledge, this represents the first case of CNS in Chile carrying a
NPHS1 variant associated with prolonged kidney survival. As described in the Maori population, the patient exhibited a less severe clinical course compared to classical
NPHS1 patients. Genetic testing for the Maori founder variant in CNS patients related to the New Zealand population, could impact management decisions and potentially prevent the need for nephrectomies.