A familial childhood-onset relapsing nephrotic syndrome
A familial childhood-onset relapsing nephrotic syndrome
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DOI：
10.1038/sj.ki.5002110
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发表时间：
2007-05-01
影响因子：
19.6
通讯作者：
Iijima, K.
中科院分区：
文献类型：
--
作者：
Kitamura, A.;Tsukaguchi, H.;Iijima, K.
病例1：一名11岁男孩（II-2）被转诊评价持续轻度蛋白尿无血尿.他的父母和哥哥尿检呈阴性。该男孩出生时有明显的3+蛋白尿病史。感染和自身抗体的血清学检测为阴性。肾病综合征（NS）持续了2个月（图1），但患者在未接受任何免疫抑制治疗的情况下进入部分缓解。他随后每年经历2-3次与上呼吸道感染相关的肾病范围复发。蛋白尿加重通常持续1-2周，但自发消退至1+至2+水平。在患者2个月大的肾病期间进行活检，并在5岁时部分缓解时再次进行活检。体格检查、肾脏超声检查和泌尿生殖系统检查均正常。未观察到听力损失或眼科异常。病例2：病例1的四岁妹妹（II-3）来我院就诊，以评估持续性蛋白尿。她在感染后10个月大时首次表现为NS。类似于她的受影响的兄弟，她自发地实现了部分缓解一次，但此后反复复发，同时呼吸道感染。这些复发通常持续7 - 10天，蛋白尿在没有任何治疗的情况下缓解至+/-至+。她从未接受过任何药物治疗或肾活检。
Case 1: An 11-year- old boy (II-2) was referred for evaluation of persistent mild proteinuria without hematuria. His parents and elder brother were negative for urinalysis. The boy had a history of marked 3+ proteinuria at birth. Serological tests for infections and autoantibodies were negative. The nephrotic syndrome (NS) persisted over the next 2 months (Figure 1), but the patient entered a partial remission without any immunosuppressive therapy. He subsequently experienced 2-3 relapses of nephrotic-range per year in association with an upper respiratory infection. Exacerbation of proteinuria usually lasted 1-2 weeks but spontaneously resolved to the level of 1+ to 2+. Biopsies were performed during the patient's nephrosis at 2 months of age and again when he was in partial remission at 5 years of age. Physical examination, renal sonogram, and urogenital studies were normal. Neither hearing loss nor ophthalmologic abnormalities were noted. He is currently receiving treatment with dipyridamole alone.Case 2: Four-year-old sister (II-3) of case 1 visited our clinic for evaluation of persistent proteinuria. She first manifested NS at 10 months of age following an infection. Similar to her affected brother, she spontaneously achieved a partial remission once but thereafter repeated relapses concurrently with respiratory infections. These relapses typically lasted 7 - 10 days and proteinuria remitted to +/- to + without any therapy. She never received any medication or renal biopsy.