Abstract

A 4-month-old male baby was admitted because his father and uncles had chronic kidney disease. His father was diagnosed with membranoproliferative glomerulonephritis at the age of 5, underwent a kidney transplant at the age of 22, and lost the graft due to recurrence of the disease. In contrast, the young uncle was diagnosed with C3 glomerulopathy and mycophenolate mofetil and eculizumab were initiated early. It was remarkable that our patient had normal kidney function and urine analyses but low serum C3 level (0.56 g/L; N, 0.9–1.8 g/L). In the disease-associated clinical exome analysis, a heterozygous change in the CFH gene was found. The same mutation was found homozygous in the uncle. In genetically inherited diseases, findings may occur sequentially; early screening of at-risk individuals contributes to kidney survival.

中文翻译：

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4 个月大婴儿 C3 低：这是一个问题吗？

摘要

一名4个月大的男婴因父亲和叔叔患有慢性肾病而入院。他的父亲5岁时被诊断出患有膜增生性肾小球肾炎，22岁时接受了肾移植，并因疾病复发而失去了移植物。相比之下，年轻的叔叔被诊断出患有C3肾小球病，并且很早就开始使用吗替麦考酚酯和依库丽珠单抗。值得注意的是，该患者的肾功能和尿液分析均正常，但血清 C3 水平较低（0.56 g/L；N，0.9–1.8 g/L）。在与疾病相关的临床外显子组分析中，发现了CFH基因的杂合性变化 。在叔叔身上发现了相同的纯合突变。在遗传性疾病中，结果可能是连续发生的；对高危人群进行早期筛查有助于肾脏存活。