ABSTRACT
This chapter includes a discussion of a number of genetic diseases, of varying but lesser prevalence than many other diseases reviewed in this book, that have major (but usually not only) pulmonary manifestations. We have selected for our discussion representative diseases that impinge on pulmonary function by four differing and important mechanisms: a disturbance in anatomic development of the chest wall and diaphragm, change in alveolar and/or distal bronchiolar structure, modification of the neural or muscular mechanisms of respiratory control, and change in the pulmonary vasculature. Some diseases included in these areas of discussion are also associated with sleep apnea, through mechanisms involving either abnormalities of upper airways or central dysregulation of breathing. The list of diseases covered herein is not all-inclusive. In an attempt to approximate a complete listing, we have included in Table 17.1 a brief tabulation of other relevant diseases, with current references.
