Familial respiratory distress syndrome in three consecutive full-term infants. Case reports and documentation of lung enzyme activities.
Familial respiratory distress syndrome in full-term newborn infants is a rare occurrence. Our patient delivered three consecutive full-term infants who developed findings consistent with respiratory distress syndrome. All three died from autopsy-proven hyaline membrane disease. Analysis of the activities of four enzymes that play an important role in the biosynthesis of lecithin (choline kinase, choline phosphotransferase, phospholipase A and lysolecithin acyltransferase) failed to disclose an abnormality in lung samples in our patient with familial respiratory distress syndrome.
D008243:1-Acylglycerophosphocholine O-Acyltransferase / Q000032:analysis; D002797:Choline Kinase / Q000032:analysis; D002798:Diacylglycerol Cholinephosphotransferase / Q000032:analysis; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000201:enzymology; D008297:Male; D010740:Phospholipases / Q000032:analysis; D012127:Respiratory Distress Syndrome, Newborn / Q000201:enzymology / Q000235:genetics*
D008243:1-Acylglycerophosphocholine O-Acyltransferase; D002797:Choline Kinase; D002798:Diacylglycerol Cholinephosphotransferase; D010740:Phospholipases