PubMed 16713495

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: ClCK2 , ClvC4 , Kir1.1

Title: Hereditary polyuric disorders: new concepts and differential diagnosis.

Authors: Daniel G Bichet

Journal, date & volume: Semin. Nephrol., 2006 May , 26, 224-33

PubMed link:

The identification, characterization, and mutational analysis of genes coding for key proteins to the mechanisms of urine concentration provide the basis for understanding the 2 types of hereditary nephrogenic diabetes insipidus (NDI): a pure type characterized by loss of water only, and a complex type characterized by loss of water and ions. Patients with hereditary NDI bearing mutations in AVPR2, the gene coding for the arginine vasopressin 2 receptor, or in AQP2, the gene coding for the vasopressin-sensitive water channel, have a pure NDI phenotype with loss of water, but normal conservation of sodium, potassium, chloride, and calcium. Patients bearing inactivating mutations in 1 of the 5 genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA, and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium. The purpose of this article is to increase the general awareness of these congenital NDI patients to prevent severe episodes of dehydration and provide precise molecular diagnosis and treatment.