Open Access Case report

Long-term follow-up and treatment of congenital alveolar proteinosis

Matthias Griese1*, Jan Ripper1, Anke Sibbersen1, Pia Lohse2, Peter Lohse2, Frank Brasch3, Andrea Schams1, Asli Pamir1, Bianca Schaub1, Oliver J Muensterer4, Carola Schön1, Judith Glöckner-Pagel1, Thomas Nicolai1, Karl Reiter1 and Andreas Hector1

Author Affiliations

1 Dr. von Haunersches Kinderspital, University of Munich, Munich, Germany

2 Department of Clinical Chemistry-Großhadern, University of Munich, Munich, Germany

3 Institute for Pathology, Bielefeld, Germany

4 Weill-Cornell Medical Center, Division of Pediatric Surgery, New York, NY, USA

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BMC Pediatrics 2011, 11:72  doi:10.1186/1471-2431-11-72

Published: 17 August 2011

Abstract

Background

Clinical presentation, diagnosis, management and outcome of molecularly defined congenital pulmonary alveolar proteinosis (PAP) due to mutations in the GM-CSF receptor are not well known.

Case presentation

A 2 1/2 years old girl was diagnosed as having alveolar proteinosis. Whole lung lavages were performed with a new catheter balloon technique, feasible in small sized airways. Because of some interstitial inflammation in the lung biopsy and to further improve the condition, empirical therapy with systemic steroids and azathioprin, and inhaled and subcutaneous GMCSF, were used. Based on clinical measures, total protein and lipid recovered by whole lung lavages, all these treatments were without benefit. Conversely, severe respiratory viral infections and an invasive aspergillosis with aspergilloma formation occurred. Recently the novel homozygous stop mutation p.Ser25X of the GMCSF receptor alpha chain was identified in the patient. This mutation leads to a lack of functional GMCSF receptor and a reduced response to GMCSF stimulation of CD11b expression of mononuclear cells of the patient. Subsequently a very intense treatment with monthly lavages was initiated, resulting for the first time in complete resolution of partial respiratory insufficiency and a significant improvement of the overall somato-psychosocial condition of the child.

Conclusions

The long term management from early childhood into young adolescence of severe alveolar proteinosis due to GMCSF receptor deficiency requires a dedicated specialized team to perform technically demanding whole lung lavages and cope with complications.

Keywords:
pulmonary alveolar proteinosis; therapeutic lung lavage; GM-CSF-R alpha; genetic defect; stop codon