FAMILIAL FIBROCYSTIC PULMONARY DYSPLASIA: OBSERVATIONS IN ONE FAMILY.

At least 31 cases of familial fibrocystic pulmonary dysplasia, within 10 families, have been described in the world literature. The mode of genetic transmission of this disease, however, has been uncertain until now. The author observed three unequivocal and five probable cases of familial fibrocystic pulmonary dysplasia among 56 members of one family. Diagnostic criteria included progressive dyspnea and cyanosis, digital clubbing, pulmonary hypertension, negative sweat tests, polycythemia, arterial hypoxia and hypocapnia, chest radiographs showing diffuse bilateral pulmonary fibrosis, and diffuse fibrocystic pulmonary dysplasia at postmortem examination (two cases). Among the three unequivocal cases one father-to-son transmission was observed. Non-sex-linked dominant transmission of familial fibrocystic pulmonary dysplasia is thereby proved for the first time. One patient also developed a bronchial carcinoma in addition to fibrocystic pulmonary dysplasia; this is considered to be a cause-and-effect relationship and not a coincidental complication.