Cyclic neutropenia has been rarely associated with chronic inflammation and development of reactive AA amyloidosis. We report a family with cyclic neutropenia with associated renal and thyroid amyloid. A 12-year-old female presented with thyromegaly, recurrent aphthous ulcers, severe neutropenia, and renal failure. Renal and thyroid biopsies revealed abundant amyloid deposition. Presence of a heterozygous ELANE c.358 A>T gene mutation p.I120F variant with autosomal dominant inheritance confirmed the diagnosis of cyclic neutropenia. The patient's father also had neutropenia and amyloidosis with renal failure. We started filgrastim to attenuate neutropenia and thereby reduce chronic inflammation and minimize further amyloid deposition.

中文翻译：

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周期性中性粒细胞减少症和相关淀粉样变性一例。

周期性中性粒细胞减少症很少与慢性炎症和反应性 AA 淀粉样变性的发展相关。我们报告了一个患有周期性中性粒细胞减少症并伴有肾脏和甲状腺淀粉样蛋白的家庭。一名 12 岁女性出现甲状腺肿大、复发性口疮、严重中性粒细胞减少和肾功能衰竭。肾脏和甲状腺活检显示大量淀粉样蛋白沉积。具有常染色体显性遗传的杂合 ELANE c.358 A>T 基因突变 p.I120F 变异体的存在证实了周期性中性粒细胞减少症的诊断。该患者的父亲还患有中性粒细胞减少症和淀粉样变性并伴有肾功能衰竭。我们开始使用非格司亭来减轻中性粒细胞减少症，从而减少慢性炎症并最大限度地减少进一步的淀粉样蛋白沉积。