Pulmonary alveolar microlithiasis

Orpha code: 60025OMIM code: 265100

Definition

A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.

Disease data
Classification

Disease

ORPHA code
60025
OMIM code
265100
ICD10 code
J84.0
ICD11 code
CB06

No additional description.

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