Bartter syndrome.
Article Details
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Hebert SC
Bartter syndrome.
Curr Opin Nephrol Hypertens. 2003 Sep;12(5):527-32.
- PubMed ID
- 12920401 [ View in PubMed]
- Abstract
PURPOSE OF REVIEW: This review describes recent advances in our understanding of the genetic heterogeneity, pathophysiology and treatment of Bartter syndrome, a group of autosomal recessive disorders that are characterized by markedly reduced or absent salt transport by the thick ascending limb of Henle. Consequently, individuals with Bartter syndrome exhibit renal salt wasting and lowered blood pressure, hypokalemic metabolic alkalosis and hypercalciuria with a variable risk of renal stones. RECENT FINDINGS: Previously, three genes (SLC12A2, the sodium-potassium-chloride co-transporter; KCNJ1, the ROMK potassium ion channel; ClC-Kb, the basolateral chloride ion channel) had been identified as causing antenatal and 'classic' Bartter syndrome. Two additional genes have now been identified. Barttin is a beta-subunit that is required for the trafficking of CLC-K (both ClC-Ka and ClC-Kb) channels to the plasma membrane in both the thick ascending limb and the marginal cells in the scala media of the inner ear that secrete potassium ion-rich endolymph. Loss-of-function mutations in barttin thus cause Bartter syndrome with sensorineural deafness. In addition, severe gain-of-function mutations in the extracellular calcium ion-sensing receptor can result in a Bartter phenotype because activation of this G protein-coupled receptor inhibits salt transport in the thick ascending limb (a furosemide-like effect). SUMMARY: Five genes have been identified as causing Bartter syndrome (types I-V), with the unifying pathophysiology being the loss of salt transport by the thick ascending limb. Phenotypic differences in Bartter types I-V relate to the specific physiological roles of the individual genes in the kidney and other organ systems.
DrugBank Data that Cites this Article
- Drug Targets
Drug Target Kind Organism Pharmacological Action Actions Potassium chloride Solute carrier family 12 member 2 Protein Humans UnknownNot Available Details - Drug Transporters
Drug Transporter Kind Organism Pharmacological Action Actions Potassium chloride Solute carrier family 12 member 2 Protein Humans UnknownSubstrateDetails