A Congenital Defect of Water Metabolism

Title: A Congenital Defect of Water Metabolism
Authors: Waring, Antonio J.; Kajdi, Laslo; Tappan, Vivian
Publisher: American Medical Association
Date Published: January 01, 1945
Reference Number: 288

This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)

Waring, et al., report on 6 boy patients who were hospitalized due to unexplained fever, failure to gain weight and constipation. Each of the boys seemed to have the same syndrome, characterized by the above symptoms, plus: 1) onset of the disease shortly after birth, 2) vomiting during the first three months of life, 3) polydipsia (chronic, excessive thirst), 4) polyuria (chronic passage of large volumes of urine), 5) high serum levels of sodium and chloride, 6) dilute urine, 7) high skin resistance, 8) rapid dehydration if fluids are reduced or withheld, and 9) possible occurrence in boys only.

Dehydration could be corrected easily by allowing the patient free access to water. Injections of pitressin, a synthetic form of vasopressin, provided no relief to the symptoms. The authors' examinations indicated that the patients had a specific defect in their kidney tubules that prevented the reabsorption of body water.