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Case Reports
. 2017 Nov;52(11):E94-E96.
doi: 10.1002/ppul.23760.

New Mutations in the SLC7A7 Gene of Two Chinese Sisters With Lysinuric Protein Intolerance

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Free PMC article
Case Reports

New Mutations in the SLC7A7 Gene of Two Chinese Sisters With Lysinuric Protein Intolerance

Guoqing Zhang et al. Pediatr Pulmonol. .
Free PMC article

Abstract

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 5 μg/kg two times a day. Her condition is improving with no side effects.

Keywords: GM-CSF; gene mutation; lysinuric protein intolerance (LPI).

Figures

Figure 1
Figure 1
(A) At admission, mutiple small cystic lucency in subpleural and crazy paving pattern. (B) 1.5 years later, areas of ground glass attenuation are no longer visible
Figure 2
Figure 2
(A) Five years before admission, multiple cystic lucency in subpleural and crazy paving pattern. (B) At admission, nodular opacities on the apicoposterior of the left lung lobe, multiple cystic lucency in subpleural of both upper lobes. (C) A 1.5 years after admission, no significant improvement compared to at admission

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References

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