Aytekin Caner, Germeshausen Manuela, Tuygun Nilden, Dogu Figen, Ikinciogullari Aydan
Department of Pediatric Immunology, University School of Medicine, Ankara, Turkey.
J Pediatr Hematol Oncol. 2013 Mar;35(2):e81-3. doi: 10.1097/MPH.0b013e3182679000.
Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndromic type of severe congenital neutropenia, associated with multiple organ abnormalities including facial, cardiac, and urogenital abnormalities, and increased visibility of superficial veins. The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum stress, and apoptosis in neutrophils. We report a new case of G6PC3 deficiency caused by a novel homozygous G6PC3 gene mutation (p.Leu154Pro). Most remarkable is that the chronic neutropenia that originated from this novel G6PC3 genetic defect is also accompanied by some other unusual manifestations in this patient: myelokathexis and hypercholesterolemia.
葡萄糖-6-磷酸酶催化亚基3（G6PC3）缺乏症是一种新描述的综合征型严重先天性中性粒细胞减少症，与多种器官异常相关，包括面部、心脏和泌尿生殖系统异常，以及浅表静脉可见度增加。G6PC3缺乏症的分子病理生理学与葡萄糖稳态紊乱、内质网应激增加和中性粒细胞凋亡有关。我们报告了一例由新型纯合G6PC3基因突变（p.Leu154Pro）引起的G6PC3缺乏症新病例。最值得注意的是，源自这种新型G6PC3基因缺陷的慢性中性粒细胞减少症在该患者中还伴有一些其他不寻常的表现：粒细胞滞留和高胆固醇血症。
