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.[Error: Macro 'ref' doesn't exist]

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
		Transient antenatal Bartter syndrome
			MAGED2
	EAST syndrome
	Gitelman syndrome
	Hypomagnesemia