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Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a substance made up of fat and protein (surfactant) builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Symptoms typically begin the newborn period and get worse over time.
Congenital pulmonary alveolar proteinosis is caused by genetic changes (mutations) in one of several different genes. It is inherited in either an autosomal dominant, autosomal recessive or X-linked recessive pattern depending on the gene involved. If the gene involved is the ABCA3 gene, the CSF2RB gene, or the SFTPB gene, inheritance is autosomal recessive. If the gene involved is the SFTPC gene, inheritance is autosomal dominant. If the gene involved is the CSF2RA gene, inheritance is X-linked recessive.
Congenital pulmonary alveolar proteinosis is diagnosed based on the symptoms, imaging studies and genetic testing. Treatment is difficult and can involve washing out the lungs (bronchoalveolar lavage) or lung transplant. Infants may be put on an artificial breathing machine. Without treatment, this condition may be fatal within a few months of life. Congenital pulmonary alveolar proteinosis is rare and occurs in about 1 in 1.5 million births.
Source: GARD Last updated on 05-01-20
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