Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency
Makaleler > Tam Makale · 2021
Yazarlar: Zeynep Yildiz Yildirmak, Gul Ozcelik, Ayse Aysim Ozagari, Dildar Bahar Genc, Huseyin Onay
Journal of Pediatric Hematology/Oncology, Uluslararası, Wos, 2021, cilt 44, ss e431-e433
DOI: 10.1097/mph.0000000000002237
Özet
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic features, inflammatory bowel disease and autoinflammatory complications are less frequently observed manifestations. However, amyloidosis has never been reported in G6PC3 deficiency. Here, we present a 12-year-old patient with incidentally discovered neutropenia because of the p.E65A (c.194A>C) variant of the G6PC3 gene. He had recurrent aphthae and abdominal pain episodes, and developed nephrotic-range proteinuria, amyloidosis, and end-stage renal failure during follow-up.