NEPHROGENIC DIABETES INSIPIDUS: TRANSMITTED BY FEMALES AND APPEARING DURING INFANCY IN MALES

Publisher Website
Google Scholar
Abstract
Seven members of one family in 5 generations were the victims of diabetes insipidus. The disease made its appearance soon after birth. It occurred only in [male][male], was transmitted only by [female][female] and appeared to be a sex-linked, recessive characteristic. It did not respond to pitressin therapy. The disease led to some impairment of growth and 2 of the individuals died early in life. In one patient, there was demonstrated impairment in the renal plasma flow, in the tubular excretion of diodrast and of phenolsulfonphthalein. There was also a decrease in the plasma clearance of urea, Na, K, and creatinine. There was a slight decrease in the glomerular filtration and increase in the filtration fraction. The maximal rate of tubular glucose re-absorption was normal. It was concluded that there probably existed an anatomic or physiologic defect, or both, in the loop of Henle and the distal convoluted tubules.

This publication has 3 references indexed in Scilit: