New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

被引：20
作者：
Zhang, Guoqing [1 ]
Cao, Ling [1 ]
机构：
[1] Capital Inst Pediat, Childrens Hosp, Beijing, Peoples R China
来源：
PEDIATRIC PULMONOLOGY | 2017年 / 52卷 / 11期
关键词：
gene mutation; GM-CSF; lysinuric protein intolerance (LPI); ALVEOLAR MACROPHAGES; DEFICIENT;
D O I：
10.1002/ppul.23760
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM-CSF for 1.5 years at 5g/kg two times a day. Her condition is improving with no side effects.
引用
收藏
页码：E94 / E96
页数：3
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