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一例周期性中性粒细胞减少症合并淀粉样变性病例。

A Case of Cyclic Neutropenia and Associated Amyloidosis.

作者信息

Ilonze Chibuzo, Galipp Kari M, Scordino Teresa, Meyer William H, Baker Ashley

机构信息

Department of Pediatrics, Jimmy Everest Section of Pediatric Hematology/Oncology.

Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of South Alabama, Mobile, AL.

出版信息

J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1115-e1117. doi: 10.1097/MPH.0000000000002217.

Abstract

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.

摘要

周期性中性粒细胞减少症很少与慢性炎症及反应性AA型淀粉样变性的发生相关。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变的家族。一名12岁女性出现甲状腺肿大、复发性口腔溃疡、严重中性粒细胞减少症和肾衰竭。肾脏和甲状腺活检显示有大量淀粉样蛋白沉积。存在杂合的ELANE基因c.358 A>T突变p.I120F变体且呈常染色体显性遗传,这证实了周期性中性粒细胞减少症的诊断。患者的父亲也有中性粒细胞减少症和伴有肾衰竭的淀粉样变性。我们开始使用非格司亭来减轻中性粒细胞减少症,从而减轻慢性炎症并尽量减少进一步的淀粉样蛋白沉积。

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