Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case reportReport as inadecuate




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Orphanet Journal of Rare Diseases

, 2:14

First Online: 26 March 2007Received: 12 December 2006Accepted: 26 March 2007DOI: 10.1186-1750-1172-2-14

Cite this article as: Ceruti, M., Rodi, G., Stella, G.M. et al. Orphanet J Rare Dis 2007 2: 14. doi:10.1186-1750-1172-2-14

Abstract

BackgroundPulmonary alveolar proteinosis PAP is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary. Among the latter, lysinuric protein intolerance LPI is a rare genetic disorder caused by defective transport of cationic amino acids. Whole Lung Lavage WLL is currently the gold standard therapy for severe cases of PAP.

Case presentationWe describe the case of an Italian boy affected by LPI who, by the age of 10, developed digital clubbing and, by the age of 16, a mild restrictive functional impairment associated with a high-resolution computed tomography HRCT pattern consistent with pulmonary alveolar proteinosis. After careful assessment, he underwent WLL.

ConclusionTwo years after WLL, the patient has no clinical, radiological or functional evidence of pulmonary disease recurrence, thus suggesting that WLL may be helpful in the treatment of PAP secondary to LPI.

Electronic supplementary materialThe online version of this article doi:10.1186-1750-1172-2-14 contains supplementary material, which is available to authorized users.

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Author: Michele Ceruti - Giuseppe Rodi - Giulia M Stella - Andrea Adami - Antonia Bolongaro - Aldo Baritussio - Ernesto Pozzi - Ma

Source: https://link.springer.com/



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