A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
- Resource Type
- article
- Authors
- Adel S. Al-Haidary; Wadha Alotaibi; Sami A. Alhaider; Suhail Al-Saleh
- Source
- Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017)
- Subject
- Pulmonary alveolar proteinosis
CSF2RA
Whole lung lavage
Pediatrics
Diffuse lung disease
case report
Medicine
- Language
- English
- ISSN
- 1752-1947
Abstract Background The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. Case presentation A 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage. Conclusions This case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.