Concepedia

Hereditary Pulmonary Alveolar Proteinosis

Takuji Suzuki, Takuro Sakagami, Lisa R. Young, Brenna Carey, Robert E. Wood, Maurizio Luisetti, Susan E. Wert, Bruce K. Rubin, Katharine Kevill, Claudia Chalk,

American Journal of Respiratory and Critical Care Medicine · 2010 · 169 citations · 35 references

DOIFull text

Open access

Abstract

CSF2RA mutations cause a genetic form of PAP presenting as insidious, progressive dyspnea in children that can be diagnosed by a combination of characteristic radiologic findings and blood tests and treated successfully by whole-lung lavage.

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