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Novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis associated with cholelithiasis
Sukanta Kodali1, Arghya Bandyopadhyay2, Jaydip Deb3
1Respiratory Medicine, Nilratan Sircar Medical College, Kolkata, West Bengal, India sukantakodali@gmail.com.
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.
Insights
Pulmonary alveolar microlithiasis (PAM), a rare lung disorder, was diagnosed incidentally in a woman. Genetic analysis revealed a novel SLC34A2 mutation, emphasizing integrated diagnostic approaches for rare pulmonary diseases.
Area of Science:
- Pulmonary Medicine
- Genetics
- Rare Diseases
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disorder.
- It is characterized by calcium phosphate microlith deposition within lung alveoli.
- Mutations in the SLC34A2 gene are the known cause of PAM.
Purpose of the Study:
- To report a case of incidental diagnosis of Pulmonary alveolar microlithiasis (PAM).
- To identify the genetic basis of PAM in the reported case.
- To highlight the importance of multidisciplinary diagnostic approaches for rare lung diseases.
Main Methods:
- High-resolution computed tomography (HRCT) of the thorax.
- Bronchoalveolar lavage (BAL) and transbronchial lung biopsy (TBLB).
- Genetic analysis for SLC34A2 gene mutations.
Main Results:
- A woman in her 60s was incidentally diagnosed with PAM during evaluation for gallstones.
- HRCT showed diffuse bilateral calcific micronodules.
- BAL and TBLB confirmed intra-alveolar microliths.
- A novel homozygous missense mutation (p.Gly187Arg) in exon 6 of the SLC34A2 gene was identified.
Conclusions:
- Integrated interpretation of radiological, pathological, and genetic findings is crucial for diagnosing rare pulmonary diseases like PAM.
- This case presents a novel SLC34A2 mutation associated with PAM.
- The patient remained asymptomatic post-cholecystectomy, underscoring the importance of accurate diagnosis and management.
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