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[硫胺素依赖型贫血和血小板减少症、胰岛素依赖型糖尿病和感音神经性耳聋——病例报告及文献复习]

[Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness--case report and review].

作者信息

Rosskamp R, Zigrahn W, Burmeister W

出版信息

Klin Padiatr. 1985 Jul-Aug;197(4):315-7. doi: 10.1055/s-2008-1033992.

DOI:10.1055/s-2008-1033992
PMID:4046487
Abstract

Report of an 3 1/2 year old girl who because of resistant anemia and thrombocytopenia received blood transfusions since her third month of life. 15 months later she developed diabetes mellitus. Sensorineural deafness was noticed since her third year of life. Daily 25 mg thiamine prevented anemia and thrombocytopenia. The syndrome is compared with the 5 published cases of world literature.

摘要

一名3岁半女童的病例报告，该女童自出生3个月起因难治性贫血和血小板减少症接受输血治疗。15个月后，她患上了糖尿病。3岁起出现感音神经性耳聋。每日服用25毫克硫胺素可预防贫血和血小板减少症。该综合征与世界文献中已发表的5例病例进行了比较。

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引用本文的文献

1
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.通过纯合性定位将硫胺素反应性巨幼细胞贫血综合征基因定位于1号染色体长臂。
Am J Hum Genet. 1997 Dec;61(6):1335-41. doi: 10.1086/301642.
2
Transient and permanent neonatal diabetes.短暂性和永久性新生儿糖尿病。
Eur J Pediatr. 1995 Dec;154(12):944-8. doi: 10.1007/BF01958635.
3
Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.
对7例硫胺素反应性巨幼细胞贫血患者红细胞硫胺素转运和磷酸化的进一步研究。
J Inherit Metab Dis. 1994;17(6):667-77. doi: 10.1007/BF00712009.