Details

Autor(en) / Beteiligte

• Yildirmak, Zeynep Yildiz
• Ozcelik, Gul
• Ozagari, Ayse Aysim
• Genc, Dildar Bahar
• Onay, Huseyin

Titel

Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency

Ist Teil von

• Journal of pediatric hematology/oncology, 2022-03, Vol.44 (2), p.e431-e433

Ort / Verlag

United States

Erscheinungsjahr

2022

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.