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首页> 外文期刊>CEN Case Reports >Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy
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Nephrotic-range proteinuria in an infant with thin basement membrane nephropathy

机译：婴幼儿薄基底膜肾病的肾范围蛋白尿

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Thin basement membrane nephropathy (TBMN) with heterozygous COL4A3/COL4A4 mutations is considered to be a cause of benign familial hematuria. The disease has been believed to have excellent prognosis and TBMN in early childhood is rarely associated with nephrotic-range proteinuria. Furthermore, the presence of proteinuria in patients with TBMN is associated with autosomal-dominant Alport syndrome, which has poorer prognosis in later life. We present an infant case of nephrotic-range proteinuria associated with TBMN caused by heterozygous COL4A4 mutation. A previously healthy 3-year-old boy developed microhematuria and nephrotic-range proteinuria. Renal pathology simply revealed thinning of the glomerular basement membrane (GBM) and mutational analysis revealed a novel heterozygous mutation in COL4A4. He was treated with lisinopril for 1.5 years, which resolved his proteinuria and hematuria. At the most recent follow-up at 6.5 years of age, urinalysis and kidney function were completely normal, without requiring medication. However, transient but repeated moderate to nephrotic-range proteinuria and microscopic hematuria occurred in association with other illnesses. This case highlights the spectrum of phenotypes that may be apparent in an infant with TBMN. Thinning of the GBM can cause transient nephrotic-range proteinuria, particularly in the early stages of TBMN.
机译：具有杂合的COL4A3 / COL4A4突变的薄基底膜肾病（TBMN）被认为是良性家族性血尿的原因。据信该病具有良好的预后，并且儿童早期的TBMN很少与肾病范围蛋白尿有关。此外，TBMN患者中蛋白尿的存在与常染色体显性Alport综合征有关，后者的预后较差。我们介绍了由杂合性COL4A4突变引起的与TBMN相关的肾病范围蛋白尿的婴儿病例。先前健康的3岁男孩发展为微血尿和肾病范围蛋白尿。肾脏病理学仅显示肾小球基底膜（GBM）变薄，突变分析显示COL4A4中存在新的杂合突变。他接受赖诺普利治疗1.5年，从而解决了蛋白尿和血尿。在6.5岁的最新随访中，无需药物治疗，尿液分析和肾功能完全正常。然而，短暂但反复出现中度至肾病范围蛋白尿和镜下血尿与其他疾病有关。这种情况强调了在TBMN婴儿中可能明显的表型谱。 GBM变薄会导致短暂的肾病范围蛋白尿，尤其是在TBMN的早期阶段。

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