Novel CUBN Mutation in a Young Child With Megaloblastic Anemia

被引：2

作者：

Falcon, Corey ^{[1
]}

Hamm, Austin J. ^{[2
]}

Li, Geling ^{[3
]}

Lebensburger, Jeffrey ^{[4
]}

Howard, Thomas H. ^{[4
]}

Xavier, Ana C. ^{[4
]}

机构：

[1] Ochsner Hosp Children, Dept Pediat, Div Hematol Oncol, New Orleans, LA 70122 USA

[2] East Tennessee Childrens Hosp, Knoxville, TN USA

[3] Univ Alabama Birmingham, Dept Pathol, Div Anat Pathol, Birmingham, AL 35294 USA

[4] Univ Alabama Birmingham, Dept Pediat, Div Hematol Oncol, Birmingham, AL USA

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2021年 / 43卷 / 04期

关键词：

megaloblastic anemia; cobalamin; Imerslund-Grasbeck syndrome; cubulin; IMERSLUND-GRASBECK SYNDROME; MALABSORPTION; VITAMIN-B-12; COBALAMIN; CUBILIN;

D O I：

10.1097/MPH.0000000000001958

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Inherited disorders of cobalamin (Cbl, vitamin B-12) metabolism are rare causes of megaloblastic anemia and neurologic abnormalities. More prevalent in certain ethnic groups, these disorders occur despite adequate Cbl intake and usually result from abnormal vitamin cell transport or processing. Cubilin (CUBN, intrinsic factor-cobalamin receptor) is the intestinal receptor for the endocytosis of intrinsic factor-vitamin B-12. Its gene is localized to chromosome 10p13 and mutations involving CUBN have been described in patients with congenital megaloblastic anemia. In this report, we describe a novel CUBN pathogenic variant in a child with megaloblastic anemia.

引用

页码：E546 / E549

页数：4

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