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A Case of Cyclic Neutropenia and Associated Amyloidosis.
Ilonze, Chibuzo; Galipp, Kari M; Scordino, Teresa; Meyer, William H; Baker, Ashley.
Afiliação
  • Ilonze C; Department of Pediatrics, Jimmy Everest Section of Pediatric Hematology/Oncology.
  • Galipp KM; Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of South Alabama, Mobile, AL.
  • Scordino T; Department of Pediatrics, Jimmy Everest Section of Pediatric Hematology/Oncology.
  • Meyer WH; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
  • Baker A; Department of Pediatrics, Jimmy Everest Section of Pediatric Hematology/Oncology.
J Pediatr Hematol Oncol ; 43(8): e1115-e1117, 2021 11 01.
Article em En | MEDLINE | ID: mdl-34224518
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Estomatite Aftosa / Doenças da Glândula Tireoide / Elastase de Leucócito / Amiloidose / Mutação / Neutropenia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: J Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Estomatite Aftosa / Doenças da Glândula Tireoide / Elastase de Leucócito / Amiloidose / Mutação / Neutropenia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: J Pediatr Hematol Oncol Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2021 Tipo de documento: Article