History and Geography

According to a medieval German saying, "The infant who when kissed leaves a taste of salt will not reach the first year of life." Hence, ,CF was probably recognized many centuries ago. However, it was first identified in 1936 by the Swiss pediatrician Guido Fanconi and associates, and further delineated by Dorothy H. Andersen of New York in 1938. The diagnostic perspirational salt loss was quantified by Paul di Sant'Agnese and associates (New York) in 1953.

CF is most prevalent among people of central European ancestry (1 in 2,000 to 3,000 births) and is somewhat less common in Scandinavia. Inbreeding explains incidences of greater than 1 per 1,000 in small areas. For example, the prevalence of CF among nearly 11,000 Amish in one Ohio county was more than 1 per 600, with all cases within six families, whereas there were no cases in another Amish community in a nearby county. Similar results of inbreeding have been reported from Brittany and from Afrikaners in Namibia. CF has been reported in about 1 in 17,000 black Americans, and in 1 in 90,000 Orientals (mainly Japanese) in Hawaii. The prevalence of CF has not been investigated adequately in Asia or Africa1. It is possible that its true prevalence is masked by high infant mortality in large portions of these continents.

The CF gene was identified in 1989. With the rapid advances in gene.transfer therapy, it may soon become possible to correct the defect from which the multiple pathological processes of this disease result. Then, instead of merely prolonging life by treating the symptoms, physicians may give CF infants a normal future.

Thomas G. Benedek

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