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Case Reports
. 2016 Jul-Sep;11(3):227-9.
doi: 10.4103/1817-1737.182900.

Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia

Gawahir Mohamed Ahmed Mukhtar  1 , Wadha Hilal Al Otaibi  1 , Khalid Fahad Abdullah Al-Mobaireek  1 , Suhail Al-Saleh  2
Affiliations
Case Reports

Adenosine triphosphate-binding cassette member A3 gene mutation in children from one family from Saudi Arabia

Gawahir Mohamed Ahmed Mukhtar et al. Ann Thorac Med. 2016 Jul-Sep.

Abstract

Mutation in ABCA3, which is adenosine triphosphate-binding cassette member A3, a member of protein transporter family for phospholipids into the lamellar bodies during synthesis of surfactant, can cause lung disease related to surfactant dysfunction with autosomal recessive pattern. We reported three cases from same family with ABCA3 mutation, their gene, clinical course, and outcomes mentioning that one patient had successful lung transplantation, one started the process of the lung transplantation while the third one died during infancy. We concluded that the patients with ABCA3 gene mutations are increasing in numbers may be due to the availability of the genetic testing and high index of suspicion among physicians. Lung transplantation is the definitive treatment, but availability is limited in our region.

Keywords: Adenosine triphosphate-binding cassette member A3; Saudi Arabia; children.

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Figures

Figure 1
Figure 1
Computerized tomography chest showed diffused ground opacities in both sides
Figure 2
Figure 2
Computerized tomography scan chest showed evidence of ground glass opacities involving both lungs
Figure 3
Figure 3
Computerized tomography scan of the lung showed ground glass opacities in both lungs with lobular septal thickening
See this image and copyright information in PMC

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