RT Journal Article
SR Electronic
T1 Congenital alveolar proteinosis
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1474
OP 1477
VO 25
IS 10
A1 Kattan, Abdulhakeim K.
A1 Bulagannawar, Prakash S.
A1 Hussain, Iftikhar
YR 2004
UL http://smj.org.sa/content/25/10/1474.abstract
AB 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.