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A Pedigree with Pulmonary Alveolar Microlithiasis: A Clinical Case Report and Literature Review

Cell Biochemistry and Biophysics volume 70, pages 565–572 (2014)Cite this article

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the presence of innumerable calcium phosphate microliths in the alveoli. Clinical-radiological dissociation is an important hallmark of this disease. Most PAM patients are asymptomatic and pulmonary tissue changes are discovered incidentally. PAM is pathologically attributable to the formation and aggregation of calcium phosphate microliths in the alveoli after mutations in the SLC34A2 gene (the type IIb sodium-phosphate cotransporter gene) coding NaPi-IIb. In the clinical work, we discovered an inbred pedigree with PAM, which include four PAM siblings. We performed a sequence analysis of the SLC34A2 gene in all members of this PAM pedigree and found that a homozygous mutation c.575C > A (p.T192 K) in exon 6 was involved. To the best of our knowledge, this study was the first to discover nucleotide mutations in exon 6 in Asians.

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  1. Department of Respiratory Medicine, Second Hospital of Jilin University, Changchun, 130041, Jilin Province, China

    Tiangang Ma, Jin Ren, Jinzhi Yin & Zhongsen Ma

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  1. Tiangang Ma
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Correspondence to Zhongsen Ma.

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Ma, T., Ren, J., Yin, J. et al. A Pedigree with Pulmonary Alveolar Microlithiasis: A Clinical Case Report and Literature Review. Cell Biochem Biophys 70, 565–572 (2014). https://doi.org/10.1007/s12013-014-9957-9

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  • DOI: https://doi.org/10.1007/s12013-014-9957-9

Keywords

  • Pulmonary alveolar microlithiasis
  • SLC34A2 gene
  • Pulmonary diseases