Some Genetic Considerations in Cystic Fibrosis. A Study of Nail and Sweat Sodium in Two Sibships1

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Abstract
Summary: The rationale for studying tissue that stores sodium as it occurs in nails is presented. The results of our studies on the concentration of sodium in 242 patients with C.F., 63 healthy children, 171 parents of children with C.F., 51 healthy adults and 184 siblings of patients with cystic fibrosis are presented. The elevated nail sodium concentration was detected in over 95 % of the patients with C.F. and in no patient with C.F. was the value less than 80 mEq/Kg. Seven out of 8 children born to parents, one of whom had C.F., showed elevated nail sodium. By definition these healthy children are the only presently recognized heterozygotes in infancy. The sibling group showed a wide range of values suggesting the possibility of indicating the heterozygote.The nail and sweat sodium results in three generations of two selected sibships is shown in graphic form. Variations are noted which indicate that this type of study does not select the heterozygote for the gene of cystic fibrosis.The usefulness of the measurement of nail sodium is stated. It is hoped that this report will stimulate others to seek other methods for detecting the heterozygote.