INTRODUCTION: Pulmonary alveolar proteinosis (PAP) is defined by increased accumulation of surfactant in the alveolar space. PAP has been reported to be associated with a large number of clinical conditions and diseases. Whole lung lavages can be helpful to stabilize the clinical course of PAP until the underlying condition is identified, which may enable more specific treatment. Recently, heterozygous OAS1 gain-of-function variants were described as cause in a patient with infantile-onset PAP combined with hypogammaglobulinemia. CASE PRESENTATION: At age 4 months, a female infant born to term was diagnosed with hypogammaglobulinemia and treated with monthly immunoglobulin injections. At age 15 months, the girl needed supplemental oxygen at night, and at age 18 months, also during the day. At age 2 years, pulmonary alveolar proteinosis of unknown etiology was diagnosed by computed tomography scan and open lung biopsy. Subsequently, monthly whole lung lavages (WLLs) were started, which stabilized the clinical course for over 2 years until a disease-causing OAS1 variant was diagnosed and the patient was successfully treated by hematopoietic stem cell transplantation. CONCLUSION: Here, we describe the successful management of a female patient with severe PAP caused by a heterozygous OAS1 gain-of-function variant until a definitive diagnosis was made and cured by hematopoietic stem cell transplantation. This article is protected by copyright. All rights reserved.
- Seidl, E.
- Schramm, D.
- Schön, C.
- Reiter, K.
- Pawlita, I.
- Kappler, M.
- Reu-Hofer, S.
- Hauck, F.
- Albert, M.
- Griese, M.
Keywords
- Oas1
- genetic defect
- pulmonary alveolar proteinosis
- stem cell transplantation
- therapeutic lung lavage
