严重先天性中性粒细胞减少症，伴有葡萄糖-6-磷酸酶催化下血糖生成素3（g6pc3）缺乏症或成年后发现的杜尔孙综合征

IF 1.8 Q3 HEMATOLOGY

Hematology, Transfusion and Cell Therapy Pub Date : 2024-05-01 DOI:10.1016/j.htct.2024.04.041

Yunus CATMA , Elif Sakci , Tugba Kalayci , Sevgi Kalayoglu Besisik

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引用次数: 0

摘要

病例报告重度先天性中性粒细胞减少症非常罕见，通常在儿童时期诊断出来。葡萄糖代谢控制基因突变导致的 G6PC3 缺乏症是一种综合症变异。我们在此介绍一例因 FMF 相关 AA 淀粉样变性而接受肾移植后出现不明原因中性粒细胞减少症的年轻成人病例。他有面部畸形、生长迟缓和房间隔缺损。父母是亲属，他有反复感染史。基因筛查发现患者存在 G6PC3 基因突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

SEVERE CONGENİTAL NEUTROPENİA WİTH GLUCOSE-6-PHOSPHATASE CATALYTİC SUBUNİT 3 (G6PC3) DEFİCENCY OR DURSUN SYNDROME DİAGNOSED AT ADULTHOOD

Case report

Severe congenital neutropenia is rare and usually diagnosed at childhood. G6PC3 deficiency emerge by mutation in glucose metabolism controlling genes as a syndromic variant. We here present a young adult case with unexplained neutropenia after kidney transplantation for FMF related AA amyloidosis. He had facial dismorphism, growth retardation, and atrial septal defect. Parents were relatives and he had recurrent infection history. Genetic screening revealed G6PC3 gene mutation in patient.

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来源期刊

Hematology, Transfusion and Cell Therapy Multiple-

CiteScore

2.40

自引率

4.80%

发文量

1419

审稿时长

30 weeks