faqs.org » Abstracts Index » Abstracts » Health

Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus

Article Abstract:

A defect in the gene for the vasopressin V2 receptor appears to be the cause of nephrogenic diabetes insipidus. The hormone vasopressin regulates excretion of water in the urine. Nephrogenic diabetes insipidus is a rare genetic disease in which the kidneys' response to vasopressin is impaired. The Hopewell hypothesis holds that patients with nephrogenic diabetes insipidus in the US are all descendants of a group of immigrants who arrived on the ship Hopewell and settled in Canada and New England in the mid-1700s. A family study of this disease indicated that it is an X chromosome-linked hereditary disorder like color blindness and hemophilia. These types of diseases primarily affect men, and women may carry the gene for the disorder but rarely have the disorder. DNA analysis further revealed that affected family members had a mutation in the gene for the V2 receptor that binds to vasopressin. Along with previous studies, these findings rule out the Hopewell hypothesis.

---

Brief report: a mutation in the vasopressin V-2 receptor gene in a kindred with X-linked nephrogenic diabetes insipidus

Article Abstract:

A defect in the gene for the vasopressin V2 receptor appears to be the cause of nephrogenic diabetes insipidus. Vasopressin is a hormone that regulates the excretion of water in the urine. Nephrogenic diabetes insipidus is a rare, inherited, X chromosome-linked disorder in which the kidneys do not respond to vasopressin. X chromosome-linked disorders primarily affect males, and females may be carriers but do not usually have the disorder. In a family study of this disease, a mother gave birth to two sons with the disease. The mother and her mother were subsequently found to be carriers of the disease. DNA analysis revealed that both of the affected boys had a mutation in the gene for the V2 receptor, which binds to vasopressin. DNA analysis also revealed that the mother and grandmother carried genes with the mutation.

---

Central diabetes insipidus in children and young adults

Article Abstract:

Many people with diabetes insipidus may have a brain abnormality or a pituitary hormone deficiency, according to a study of 79 patients. Diabetes insipidus is a form of diabetes caused by a deficiency of arginine vasopressin.

Research

Some parts © 2012 Advameg, Inc.