FAMILIAL FIBROCYSTIC PULMONARY DYSPLASIA - A DETAILED FAMILY STUDY

  • 1 January 1966
    • journal article
    • research article
    • Vol. 95  (12) , 603-+
Abstract
Six cases of familial fibrocystic pulmonary dysplasia are described involving 5 siblings and their father. The clinical findings and radiological features were similar in all 6 patients although there was some variation in the period of survival following the onset of the disease. In 3 the diagnosis was confirmed pathologically; the 2 brothers, who did not have lung biopsies, had disturbances in respiratory function which are considered typical of the impaired diffusion produced by interstitial fibrosis. One hundred and five members of the family were surveyed for evidence of this disease but no further cases were discovered. Four of the patients had some elevation of their gamma globulin. Immunoelectrophoretic analysis, which was performed on 3 of the patients, the 2 healthy siblings, and 16 of their offspring, showed elevated immunoglobulin patterns. This evidence suggests the possibility of an inherited aberration in the immune response in this family.