Bartter syndromes is a group genetically heterogenous autosomal recessive disorders characterized by hypokalemic salt-losing tubulopathies.
1968 Bartter first described a new syndrome characterized by hyperplasia
of the juxtaglomerular complex with hyperaldosteronism and hypokalemic
alkalosis. Today we consider these these symptoms as classic Bartter syndrome although some authors maintain that this two cases were in fact Gitelman syndrome.[Error: Macro 'ref' doesn't exist]
All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, hyperreninemic hyperaldosteronism, normal blood pressure, and hyperkaliuria. Also renal chloride excretion is incresead when related to serum levels.
Wastage of salt and water is a result of inactivating mutations in genes that encode membrane transportes of the thick ascending limb of the loop of Henle. The effect of these mutations on salt and water handling is similar to that of loop diuretics such as furosemide.
|Hereditary Salt-wasting tubulopathies|
|Antenatal Bartter syndrome type 1|
|Antenatal Bartter syndrome type 2|
|Classic Bartter syndrome|
|Hypercalciuric hypocalcemia 1|
|Hypercalciuric hypocalcemia 2|
|Infantile Bartter syndrome with deafness type 4|
|Transient antenatal Bartter syndrome|