Synonyms
Type 1 and 2 – Hypokalemic alkalosis with hypercalciuria, antenatal; Hyperprostaglandin E syndrome; Type 3 – Hypokalemic alkalosis with hypercalciuria, classic; Type 4 – Hypokalemic alkalosis with hypercalciuria and deafness; Type 5 – Hypocalcemia, autosomal dominant with Bartter syndrome
Definition and Characteristics
Bartter syndrome is an inherited disorder of renal tubular ion transport characterized by hypokalemia, salt wasting and metabolic alkalosis. The more severe forms are associated with maternal hydramnios and postnatal polyuria, hypercalciuria and nephrocalcinosis. The disorder is usually autosomal recessive and demonstrates genetic heterogeneity with mutations in five different genes accounting for the majority of cases.
Prevalence
The majority of reported cases of Bartter syndrome type 1, 2 and 4 have occurred in consanguineous kindred and the true prevalence of the disease in the general population is unknown. Most patients with Bartter syndrome type 3 appear...
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References
Online Mendelian Inheritance in Man OMIM: McKusick-Nathans Institute for Genetic Medicine (2000) Johns Hopkins University, Baltimore, MD; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD
Hebert SC (2003) Bartter syndrome. Curr Opin Nephrol Hypertens 12:527–532
Jeck N, Schlingmann KP, Reinalter SC, Komhoff M, Peters M, Waldegger S, Seyberth HW (2005) Salt handling in the distal nephron: lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 288:R782–R795
Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus Gu, Konrad M, Seyberth HW (2002) Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112:183
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Thomas, C.P. (2009). Bartter Syndrome Type I–V. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_204
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DOI: https://doi.org/10.1007/978-3-540-29676-8_204
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