Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bartter syndrome

Bartter syndromes is a group genetically heterogenous autosomal recessive disorders characterized by hypokalemic salt-losing tubulopathies.

Historical Aspects

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.[1]

Clinical Findings

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.

Pathogenesis

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.

Systematic

Hereditary Salt-wasting tubulopathies
Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Hypercalciuric hypocalcemia 1
CASR
Hypercalciuric hypocalcemia 2
GNA11
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
EAST syndrome
Gitelman syndrome
Hypomagnesemia

References:

1.

Fujiwara TM et al. (2005) Molecular biology of hereditary diabetes insipidus.

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2.

Peters M et al. () Hereditary Hypokalemic Salt-losing Tubular Disorders.

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3.

BARTTER FC et al. (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.

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4.

Bichet DG et al. (2004) Reabsorption of sodium chloride--lessons from the chloride channels.

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