Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic features, inflammatory bowel disease and autoinflammatory complications are less frequently observed manifestations. However, amyloidosis has never been reported in G6PC3 deficiency. Here, we present a 12-year-old patient with incidentally discovered neutropenia because of the p.E65A (c.194A>C) variant of the G6PC3 gene. He had recurrent aphthae and abdominal pain episodes, and developed nephrotic-range proteinuria, amyloidosis, and end-stage renal failure during follow-up.

中文翻译：

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由于 G6PC3 缺乏导致先天性中性粒细胞减少症患者的淀粉样变性。

葡萄糖-6-磷酸酶催化亚基 3 (G6PC3) 缺乏症是最近发现的一种与发育异常相关的先天性中性粒细胞减少症。中性粒细胞减少症的严重程度和临床表现差异很大。除了感染性并发症和血液外特征外，炎症性肠病和自身炎症性并发症是较少观察到的表现。然而，在 G6PC3 缺乏症中从未报道过淀粉样变性。在这里，我们介绍了一名 12 岁的患者，他因 G6PC3 基因的 p.E65A (c.194A>C) 变异而偶然发现中性粒细胞减少症。随访期间，患者反复出现口疮和腹痛发作，并出现肾病范围蛋白尿、淀粉样变性和终末期肾功能衰竭。