A case of systemic amyloidosis associated with cyclic neutropenia
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : HyunKyung Lee & Kyoung Hee Han & Yun Hye Jung & Hee Gyung Kang & Kyung Chul Moon & Il Soo Ha & Yong Choi & Hae Il Cheong
- چاپ و سال / کشور: 2011
Description
Reactive AA amyloidosis is caused by the accumulation of the acute phase reactant, serumamyloid A (SAA), as a complication of chronic inflammatory conditions. Cyclic neutropenia is a rare hereditary disorder characterized by repeated episodes of neutropenia at regular intervals, with or without concurrent infection, and is known to be a rare cause of AA amyloidosis. Here, we report a case of a patient who developed systemic AA amyloidosis following a prolonged course of undiagnosed cyclic neutropenia. The patient had a history of recurrent infections since infancy and developed goiter, proteinuria, and azotemia at age 14 years. Her SAA level was markedly increased (601.8 ىg/mL, normal range <8 ىg/mL), and a thyroid and kidney biopsy revealed typical lesions of AA amyloidosis. Amyloid deposits were also detected in the myocardium, colon, and gallbladder. She had repeated episodes of neutropenia regularly at 3-week intervals and a pathogenic mutation in the ELA2 gene. After 10 months of treatment with recombinant human granulocyte colony-stimulating factor, her SAA level normalized (<2.5 ىg/mL), but her renal function did not recover. This case clearly shows that cyclic neutropenia can be complicated by AA amyloidosis unless it is detected early and treated adequately.
Pediatr Nephrol (2011) 26:625–629 DOI 10.1007/s00467-010-1715-7 Received: 31 August 2010 / Revised: 10 October 2010 / Accepted: 2 November 2010 / Published online: 15 December 2010
