Hereditary polyuric disorders: new concepts and differential diagnosis.
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.
Bichet
Daniel G
DG
Groupe d'Etude des Protéines Membranaires; and the Université de Montréal, Research Centre and Nephrology Service, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada. Daniel.bichet@umontreal.ca
D020346:Aquaporins / Q000235:genetics / Q000378:metabolism; D018500:Diabetes Insipidus, Nephrogenic / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007473:Ion Channels / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome
D020346:Aquaporins; D007004:Hypoglycemic Agents; D007473:Ion Channels