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Severe pulmonary hypertension in pulmonary alveolar microlithiasis: A comprehensive literature review
Guillermo Cueto-Robledo1, Maria-Del-Carmen Cantero-Ceballos2, Leslie-Marisol Gonzalez-Hermosillo3
1Cardiorespiratory Emergencies, Hospital General de México "Dr Eduardo Liceaga", Mexico City 06720, Mexico; Pulmonary Circulation Clinic, Hospital General de México "Dr. Eduardo Liceaga", Mexico City 06720, Mexico; Faculty of Medicine, National Autonomous University of Mexico, Mexico City 04510, Mexico.
Abstract:
This review focuses on Pulmonary Alveolar Microlithiasis (PAM), an autosomal recessive genetic disorder characterized by calcium crystal deposits (microliths) resulting from loss of function of the SLC34A2 gene. PAM is a rare disease with approximately 1100 reported cases globally. The historical context of its discovery and the genetic, epidemiological, and pathophysiological aspects are discussed. PAM falls under interstitial lung diseases and is associated with pulmonary hypertension (PH), primarily categorized as Group 3 PH. The clinical manifestations, diagnostic approaches, and challenging aspects of treatment are explored. A clinical case of PAM with severe pulmonary hypertension is presented, emphasizing the importance of comprehensive evaluation and the potential benefits of phosphodiesterase-5 inhibitors (PDE5i) therapy. Despite limited therapeutic options and challenging diagnosis, this review sheds light on recent developments and emerging treatments for PAM and associated pulmonary hypertension.
Insights
Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic lung disease causing calcium deposits. This review covers its genetics, diagnosis, and emerging treatments for PAM and associated pulmonary hypertension.
Area of Science:
- Pulmonology
- Genetics
- Rare Diseases
Background:
- Pulmonary Alveolar Microlithiasis (PAM) is a rare autosomal recessive genetic disorder.
- Characterized by calcium crystal (microlith) deposition in the lungs due to SLC34A2 gene dysfunction.
- PAM is an interstitial lung disease often associated with Group 3 Pulmonary Hypertension (PH).
Purpose of the Study:
- To provide a comprehensive review of Pulmonary Alveolar Microlithiasis (PAM).
- To discuss the genetic, epidemiological, and pathophysiological aspects of PAM.
- To explore current and emerging treatment strategies for PAM and associated PH.
Main Methods:
- Literature review of Pulmonary Alveolar Microlithiasis (PAM).
- Analysis of genetic, epidemiological, and clinical data.
- Case study presentation of PAM with severe pulmonary hypertension.
Main Results:
- PAM is a rare disease with approximately 1100 global cases.
- Clinical manifestations, diagnostic challenges, and limited treatment options were discussed.
- Phosphodiesterase-5 inhibitors (PDE5i) show potential benefits in treating associated PH.
Conclusions:
- PAM diagnosis and treatment remain challenging.
- Comprehensive evaluation is crucial for managing PAM and associated PH.
- Recent developments offer hope for improved therapeutic outcomes in PAM.
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