Diagnosis and treatment of pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium–phosphate co‐transporter (SLC34A2), 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 PA...

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Bibliographic Details
Published in:Pediatrics international 2016-08, Vol.58 (8), p.805-807
Main Authors: Emiralioglu, Nagehan, Beken, Burcin, Ozcan, Hatice Nursun, Yalcin, Ebru, Dogru, Deniz, Ozcelik, Ugur, Haliloglu, Mithat, Kiper, Nural
Format: Article
Language:English
Subjects:
Adolescent
Alveoli
Biopsy
Bone Density Conservation Agents - therapeutic use
Calcinosis - diagnosis
Calcinosis - drug therapy
Child
diagnostic imaging
disodium etidronate
Etidronic acid
Etidronic Acid - therapeutic use
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - drug therapy
Genetic disorders
Humans
Lung Diseases - diagnosis
Lung Diseases - drug therapy
Male
Medical diagnosis
Medical treatment
Mutation
Pediatrics
Phosphates
pulmonary alveolar microlithiasis
Pulmonary Alveoli - diagnostic imaging
Radiology
Sodium
Sodium phosphate
Tomography, X-Ray Computed - methods
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Summary:Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium–phosphate co‐transporter (SLC34A2), 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.
ISSN:1328-8067
1442-200X
DOI:10.1111/ped.13032