一名患有1b型糖原贮积病且血小板计数升高的年轻土耳其儿童出现炎症性肠病样结肠炎。

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count.

作者信息

Saltik-Temizel Inci Nur, Koçak Nurten, Ozen Hasan, Yüce Aysel, Gürakan Figen, Demir Hülya

机构信息

Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Turk J Pediatr. 2005 Apr-Jun;47(2):180-2.

PMID:16052862

Abstract

Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl with GSD type 1b that was dignosed by mutation analysis. The patient was hospitalized with fever, diarrhea, and perioral and anal ulcers. Colonoscopy was performed and IBD-like colitis was diagnosed. The patient had elevated platelet count beyond the age of three months, but IBD-like colitis was diagnosed at three years of age. An elevated platelet count may be a warning sign for the IBD-like colitis in young patients with GSD type 1b.

摘要

炎症性肠病（IBD）样结肠炎在1b型糖原贮积病（GSD）患者中是一种已知病症。报告的患有IBD样结肠炎病例的平均年龄为12±5岁，且所有患者的绝对中性粒细胞计数（ANC）均低于1000个/微升。我们报告一名通过突变分析确诊为1b型GSD的三岁女孩。该患者因发热、腹泻以及口周和肛周溃疡住院。进行了结肠镜检查并诊断为IBD样结肠炎。该患者在三个月龄后血小板计数升高，但在三岁时被诊断为IBD样结肠炎。血小板计数升高可能是1b型GSD年轻患者发生IBD样结肠炎的一个警示信号。