Identification of cystic fibrosis and development of the sweat test


Columbia University College Of Physicians and Surgeons


Dorothy Andersen, MD, professor of pathology at Columbia University College of Physicians & Surgeons and chief of pathology at Presbyterian Hospital (now NewYork-Presbyterian), and Paul di Sant’Agnese, MD, pediatric pathologist at Columbia


Andersen first identified cystic fibrosis in 1935, after performing an autopsy of a child who had presumably died of complications of celiac disease. During the autopsy, Andersen discovered that the child had a pancreatic lesion. A subsequent review of autopsy records revealed that the disease affects mucous glands and pancreatic enzyme production, causing severe respiratory problems. In 1951, Andersen published a report of children with cystic fibrosis who died of severe salt depletion during an earlier heat wave. Di Sant’Agnese, who worked with Andersen, used this information to determine that people with cystic fibrosis have saltier sweat and are more likely to suffer from salt depletion than those without the disease. This insight led to the development of the sweat test, which became the standard method of diagnosing cystic fibrosis. It is used in those who have a positive result on a newborn screening test that identifies genetic mutations associated with the disease.