TY - JOUR
T1 - A Mutation in the Vasopressin V2-Receptor Gene in a Kindred with X-Linked Nephrogenic Diabetes Insipidus
AU - Merendino, John J.
AU - Spiegel, Allen M.
AU - Crawford, John D.
AU - O'carroll, Anne Marie
AU - Brownstein, Michael J.
AU - Lolait, Stephen J.
PY - 1993/5/27
Y1 - 1993/5/27
N2 - Hereditary nephrogenic diabetes insipidus is a rare, X-linked disorder manifested by an inability to concentrate the urine despite high plasma concentrations of arginine vasopressin or the administration of large doses of vasopressin or its analogues1,2. Affected males have profound hyposmotic polyuria soon after birth, often leading to recurrent episodes of severe dehydration. Unless recognized and treated early, these episodes may lead to failure to thrive, growth retardation, repeated bouts of cerebral edema with resultant mental retardation, or death. Females who are carriers of the gene for the disease have symptoms that range from a defective urinary-concentrating ability demonstrable…
AB - Hereditary nephrogenic diabetes insipidus is a rare, X-linked disorder manifested by an inability to concentrate the urine despite high plasma concentrations of arginine vasopressin or the administration of large doses of vasopressin or its analogues1,2. Affected males have profound hyposmotic polyuria soon after birth, often leading to recurrent episodes of severe dehydration. Unless recognized and treated early, these episodes may lead to failure to thrive, growth retardation, repeated bouts of cerebral edema with resultant mental retardation, or death. Females who are carriers of the gene for the disease have symptoms that range from a defective urinary-concentrating ability demonstrable…
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U2 - 10.1056/NEJM199305273282106
DO - 10.1056/NEJM199305273282106
M3 - Article
C2 - 8479491
AN - SCOPUS:0027207336
SN - 0028-4793
VL - 328
SP - 1538
EP - 1541
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 21
ER -