Published online Mar 26, 2024. doi: 10.12998/wjcc.v12.i9.1644
Peer-review started: October 20, 2023
First decision: January 5, 2024
Revised: January 20, 2024
Accepted: March 1, 2024
Article in press: March 1, 2024
Published online: March 26, 2024
Processing time: 156 Days and 23.7 Hours
Pulmonary alveolar proteinosis (PAP) and X-linked agammaglobulinemia (XLA) are rare diseases in children. Many theories infer that immunodeficiency can induce PAP, but these reports are almost all review articles, and there is little clinical evidence. We report the case of a child with both PAP and XLA.
A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for > 2 wk. He had been hospitalized multiple times due to respiratory infections and diarrhea. Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations. Genetic testing confirmed that the boy also had XLA. Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy, the boy recovered and was discharged. During the follow-up period, the number of respiratory infections was significantly reduced, and PAP did not recur.
XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.
Core Tip: Pulmonary alveolar proteinosis (PAP) and X-linked agammaglobulinemia (XLA) are both rare diseases in children. This article shares the diagnosis and treatment process of a special case to confirm that XLA was a secondary cause of PAP which improved with intravenous immunoglobulin treatment.