{
  "abstract": "Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disorder caused by SLC34A2 mutations, leading to intra-alveolar calcium phosphate microlith deposition. We report a case of a woman in her 60s who was incidentally diagnosed with PAM during preoperative evaluation for cholelithiasis. High-resolution CT of the thorax revealed bilateral diffuse calcific micronodules. Bronchoalveolar lavage and transbronchial lung biopsy confirmed the presence of intra-alveolar microliths. Genetic analysis identified a novel homozygous missense mutation in exon 6 of the SLC34A2 gene (p.Gly187Arg), not previously reported in the literature. The patient subsequently underwent laparoscopic cholecystectomy and remained asymptomatic from a respiratory perspective at the 6-month follow-up. This case highlights that coordinated interpretation of radiological, pathological and genetic findings is essential to establish a diagnosis of rare pulmonary disease.",
  "authors": [
    {
      "affiliations": [
        "Respiratory Medicine, Nilratan Sircar Medical College, Kolkata, West Bengal, India"
      ],
      "name": "Sukanta Kodali"
    },
    {
      "affiliations": [
        "Pathology, Nilratan Sircar Medical College, Kolkata, West Bengal, India"
      ],
      "name": "Arghya Bandyopadhyay"
    },
    {
      "affiliations": [
        "Respiratory Medicine, Nilratan Sircar Medical College, Kolkata, West Bengal, India"
      ],
      "name": "Jaydip Deb"
    },
    {
      "affiliations": [
        "Respiratory Medicine, Nilratan Sircar Medical College, Kolkata, West Bengal, India"
      ],
      "name": "Tanmoy Sarkar"
    }
  ],
  "title": "Novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis associated with cholelithiasis",
  "uid": "1b40b555-30eb-5558-9e95-a676a735bbfd"
}