Congenital alveolar proteinosis

Authors

• Abdulhakeim K. Kattan, Head and Consultant Neonatologist, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, MBC-58, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. Tel. +966 (1) 4647272 Ext. 31986. Fax. +966 (1) 4427784. E-mail: hakiem{at}kfshrc.edu.sa
• Prakash S. Bulagannawar, Department of Pediatrics, Midhnab General Hospital, Gassim, Kingdom of Saudi Arabia.
• Iftikhar Hussain, Department of Pathology, Midhnab General Hospital, Gassim, Kingdom of Saudi Arabia.

Abstract

Pulmonary alveolar proteinosis is recently described as a rare cause of lung dysfunction and respiratory distress in term neonates. In several cases, a deficiency or insufficiency of surfactant protein B SP-B has been caused by a frame shift mutation in the gene encoding SP-B. Three siblings with congenital pulmonary alveolar proteinosis showed clinical and radiological evidence. Histopathological and immunohistochemical studies in the last sibling revealed deficiency of SP-B, one of the group of 3 specific lipoproteins that reduce the surface tension between air and liquid interface within pulmonary alveoli, suggesting a gene associated illness.

Article Type

Case Report

First Page

1474

Last Page

1477

Recommended Citation

Kattan, Abdulhakeim K.; Bulagannawar, Prakash S.; and Hussain, Iftikhar (2004) "Congenital alveolar proteinosis," Saudi Medical Journal: Vol. 25: Iss. 10, Article 33.
DOI: https://doi.org/10.15537/1658-3175.2609