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2012, Volume 28, Number 3, Page(s) 282-285
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DOI: 10.5146/tjpath.2012.01138 |
Pulmonary Alveolar Microlithiasis with Homozygous c.316G>C (p.G106R) Mutation: A Case Report |
İrem Hicran ÖZBUDAK1, Cumhur İbrahim BAŞSORGUN1, Gülay ÖZBİLİM1, Güven LÜLECİ2, Alpay SARPER3, Abdullah ERDOĞAN3, Fulya TAYLAN4, Ender ALTIOK4 |
1Department of Pathology, Akdeniz University, Faculty of Medicine, ANTALYA, TURKEY
2Department of Medical Biology, Akdeniz University, Faculty of Medicine, ANTALYA, TURKEY
3Department of Chest Surgery, Akdeniz University, Faculty of Medicine, ANTALYA, TURKEY
4Acıbadem Genetic Diagnosis Center, İSTANBUL, TURKEY |
Keywords:
Homozygous c.316G>C (p.G106R) mutation, Pulmonary alveolar microlithiasis, SLC34A2 protein |
Pulmonary alveolar microlithiasis is characterized by the presence of
calcospherites in alveolar spaces. Sporadic cases are more common,
but the disease also presents in an inherited familial form. The greatest
number of reported cases is from Europe and especially Turkey. We
present a 43-year-old female with complaints of dyspnea for many
years. She had a suspicious familial history of pulmonary alveolar
microlithiasis. The surgical lung biopsy specimen appeared gritty and
firm. Histological sections showed diffuse involvement of the lung
parenchyma by innumerable tiny calcospherites. Genetic studies
showed a homozygous c.316G>C (p.G106R) mutation in exon 4 and
confirmed the diagnosis of pulmonary alveolar microlithiasis. The
present report aims to contribute to the literature with a pathologically
and genetically confirmed new case to add insight into the etiology
of this rare disease. This case confirms an autosomal recessive
inheritance and does not support the role of non-genetic and other
factors in the pathogenesis of pulmonary alveolar microlithiasis.
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