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J Pediatr Hematol Oncol ; 43(8): e1115-e1117, 2021 11 01.
Article in English | MEDLINE | ID: mdl-34224518

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.


Subject(s)
Amyloidosis/diagnosis , Leukocyte Elastase/genetics , Mutation , Neutropenia/diagnosis , Stomatitis, Aphthous/diagnosis , Thyroid Diseases/diagnosis , Amyloidosis/complications , Amyloidosis/genetics , Child , Female , Humans , Neutropenia/complications , Neutropenia/genetics , Prognosis , Stomatitis, Aphthous/complications , Stomatitis, Aphthous/genetics , Thyroid Diseases/complications , Thyroid Diseases/genetics
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