# Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report

## TL;DR

An 8-month-old infant with a rare metabolic disorder and lung disease was successfully treated with lung lavage and GM-CSF therapy.

## Contribution

This case report is the first to suggest GM-CSF therapy may be beneficial for pulmonary alveolar proteinosis associated with lysinuric protein intolerance.

## Key findings

- The infant was successfully treated with whole-lung lavage while on ECMO and later with a bronchial blocker.
- The patient was weaned from respiratory support after receiving subcutaneous and inhaled GM-CSF therapy.
- The case suggests GM-CSF may be a viable treatment for PAP in LPI patients, though further research is needed.

## Abstract

Lysinuric protein intolerance (LPI) is a multi-organ metabolic disorder characterized by the imbalance in absorption and excretion of cationic amino acids like lysine, ornithine and arginine. Infants with LPI typically present with recurrent vomiting, poor growth, interstitial lung disease or renal impairment. The early onset of pulmonary alveolar proteinosis (PAP) has been reported to be associated with a severe form of LPI. Treatment of PAP most commonly consists of whole-lung lavage (WLL) and in autoimmune PAP, granulocyte-macrophage colony stimulating factor (GM-CSF) administration. Nevertheless, GM-CSF therapy in LPI-associated PAP has not been scientifically justified.

We describe the case of an 8-month-old infant presenting with respiratory failure due to LPI associated with PAP, who was twice treated with WLL; firstly, while on veno-venous ECMO assistance and then by the use of a selective bronchial blocker. After the two treatments with WLL, she was weaned from daytime respiratory support while on initially subcutaneous, then on inhaled GM-CSF therapy.

This case supports the notion that GM-CSF therapy might be of benefit in patients with LPI-associated PAP. Further studies are needed to clarify the exact mechanism of GM-CSF in patients with LPI-associated PAP.

The online version contains supplementary material available at 10.1186/s13052-024-01677-y.