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.
In Bartter syndrome, metabolic alkalosis is found with hypokalemia and hypochloremia.
In Bartter syndrome, hypochloremia is found with hypokalemia and metabolic alkalosis.
In Bartter syndrome, hypokalemia is found with metabolic alkalosis and hypochloremia.
Polyuria is seldom as prominent as in diabetes insipidus. Urine osmolality is usually above 300 mosmol/kg and total solute excretion exceeds the normal range (600 to 900 mosmol/day).
By contrast to antenatal, hypercalciuria in classic Bartter syndrome does not cause nephrocalcinosis. Furthermore renal salt an water wastage dominate the clinical picture. Hypokalemia and metabolic alkalosis are the most prominent clinical symptoms.
|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|
Fujiwara TM et al. (2005) Molecular biology of hereditary diabetes insipidus.[^]
Peters M et al. () Hereditary Hypokalemic Salt-losing Tubular Disorders.[^]
BARTTER FC et al. (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.[^]
Bichet DG et al. (2004) Reabsorption of sodium chloride--lessons from the chloride channels.[^]
OMIM.ORG articleOmim 607364 [^]
Orphanet articleOrphanet ID 112 [^]
Wikipedia articleWikipedia EN (Bartter_syndrome) [^]