What is it about?
Eight novel variants in the SLC34A2 gene have been identified in 14 patients with pulmonary alveolar microlithiasis (PAM), which emphasises the importance of the gene in the disease. In PAM, dysfunction of NaPi-2b due to genetic variants in SLC34A2 might cause a defect in cell-uptake of phosphate, leading to elevation of phosphate levels in the alveolar lining fluid and deposition of calcium-phosphate concretions in the alveoli.
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Why is it important?
We present the genotype and phenotype characteristics in a series of PAM patients and contribute important new knowledge of the variant spectrum of SLC34A2. The finding of these gene variants and the meticulous clinical description, with a severity score, of the different patients argues in favour that a genotype-phenotype correlation in PAM may exist.
Perspectives
The main strength of this report is the presentation of both clinical and genetic data from a relatively large cohort of PAM patients from several countries. Furthermore, all genetic analyses were carried out in the same laboratory. An association between disease severity and the severity of the gene variants was found, but this needs to be investigated in larger patient populations. Our hope is that, in the future, improved knowledge may lead to specific pharmacological and non-pharmacological treatment strategies.
Guillem Pintos-Morell
University Hospital Vall d'Hebron, Barcelona
Read the Original
This page is a summary of: Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis, European Respiratory Journal, December 2019, European Respiratory Society (ERS),
DOI: 10.1183/13993003.00806-2019.
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