Bartter syndrome

Definition:

Bartter syndrome is a heterogeneous rare disease unified by autosomal recessive transmission. Bartter syndrome is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.

References:

[1]. Kamel Laghmani, et al. Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12;374(19):1853-63. [Content Brief]

[2]. Karl P Schlingmann, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004 Mar 25;350(13):1314-9. [Content Brief]

[3]. Maarten Naesens, et al. Bartter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol. 2004;96(3):p65-78. [Content Brief]

[4]. Robert Kleta, et al. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol. 2006;104(2):p73-80. [Content Brief]

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