Molecular biology of hereditary diabetes insipidus.
Article Details
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Fujiwara TM, Bichet DG
Molecular biology of hereditary diabetes insipidus.
J Am Soc Nephrol. 2005 Oct;16(10):2836-46. Epub 2005 Aug 10.
- PubMed ID
- 16093448 [ View in PubMed]
- Abstract
The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])-provide the basis for understanding of three different hereditary forms of "pure" diabetes insipidus: Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and non-X-linked NDI, respectively. It is clinically useful to distinguish two types of hereditary NDI: A "pure" type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium. Patients who bear inactivating mutations in 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. These advances provide diagnostic and clinical tools for physicians who care for these patients.
DrugBank Data that Cites this Article
- Drug Targets
Drug Target Kind Organism Pharmacological Action Actions Potassium chloride Solute carrier family 12 member 1 Protein Humans UnknownBinderDetails - Drug Transporters
Drug Transporter Kind Organism Pharmacological Action Actions Potassium chloride Solute carrier family 12 member 1 Protein Humans UnknownSubstrateDetails