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Diagnosis and treatment of pulmonary alveolar microlithiasis
Author(s) -
Emiralioglu Nagehan,
Beken Burcin,
Ozcan Hatice Nursun,
Yalcin Ebru,
Dogru Deniz,
Ozcelik Ugur,
Haliloglu Mithat,
Kiper Nural
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13032
Subject(s) - medicine , phosphate , radiological weapon , transporter , rare disease , sodium , pulmonary disease , disease , pathology , radiology , gene , genetics , biochemistry , chemistry , organic chemistry , biology
Pulmonary alveolar microlithiasis ( PAM ) is a rare genetic disease caused by mutations in sodium–phosphate co‐transporter ( SLC 34A2 ), which encodes a type 2b sodium phosphate co‐transporter. Disease is characterized by intra‐alveolar microlith formation of phosphate. Turkey has a high prevalence of PAM . Herein, we report the clinical and radiological findings of three patients diagnosed with PAM and treated with disodium etidronate.