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- Title
A novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis.
- Authors
Liu, Qingqing; Ju, Xiaoqin; Guo, Ting; Peng, Hong
- Abstract
This article discusses a case of pulmonary alveolar microlithiasis (PAM) in a 36-year-old female patient. PAM is a rare disease characterized by the accumulation of microliths in the alveolar spaces of the lung. The patient was found to have a novel compound heterozygous mutation in the SLC34A2 gene, which is responsible for calcium or phosphate metabolism and the accumulation of calcium phosphate. Currently, there is no effective treatment for PAM except for lung transplantation. The article emphasizes the importance of genetic testing for diagnosis and highlights the similarities between patients with compound heterozygous mutations and those with homozygous mutations.
- Subjects
PULMONARY alveolar proteinosis; GENETIC mutation; MEDICAL genetics; PULMONARY fibrosis; PROTEIN structure prediction; NONSENSE mutation
- Publication
QJM: An International Journal of Medicine, 2024, Vol 117, Issue 4, p293
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad280