Pulmonary alveolar microlithiasis is an autosomal recessive disease that causes calcium phosphate deposition within the alveoli of the lungs. These microlith deposits eventually damage the alveoli and interstitium of the lung.
Patients may present with dyspnea and cough, although in the majority of patients, diagnosis is made by radiography incidentally. At diagnosis, the majority of patients are asymptomatic, and individuals may not present with symptoms until 30-40 years of age. As the disease progresses, pulmonary function tests will show a restrictive lung disease, and patients may develop pulmonary hypertension, although the rate of progression is variable. Pulmonary alveolar microlithiasis may be associated with tuberculosis.
Pulmonary alveolar microlithiasis is caused by a mutation in the SLC34A2 gene, which helps regulate phosphate levels and production of protein in alveolar type II cells. The majority of cases have been reported in the United States, Europe, and Asia.
There are no specific treatments for pulmonary alveolar microlithiasis.
Pulmonary alveolar microlithiasis
Alerts and Notices
Important News & Links
Synopsis
Codes
ICD10CM:
J84.02 – Pulmonary alveolar microlithiasis
SNOMEDCT:
87153008 – Pulmonary alveolar microlithiasis
J84.02 – Pulmonary alveolar microlithiasis
SNOMEDCT:
87153008 – Pulmonary alveolar microlithiasis
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:02/20/2018
Last Updated:01/23/2022
Last Updated:01/23/2022
Pulmonary alveolar microlithiasis