Barter Syndrome classification: Difference between revisions

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|BSND
|BSND
|Barttin (B-subunit of CLC-Ka and CLC-Kb)
|Barttin (B-subunit of CLC-Ka and CLC-Kb)
|Antenatal Bartter syndrome ([[hyperprostaglandin E syndrome]]) and [[sensorineural deafness]]
|Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and [[sensorineural deafness]]
|-
|-
|Bartter syndrome type IVB
|Bartter syndrome type IVB
|ClC-Ka and ClC-Kb
|ClC-Ka and ClC-Kb
|CLC-Ka and CLC-Kb
|CLC-Ka and CLC-Kb
|Antenatal Bartter syndrome ([[hyperprostaglandin E syndrome]]) and [[sensorineural deafness]]
|Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and [[sensorineural deafness]]
|-
|-
|Bartter syndrome type V
|Bartter syndrome type V
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*[[Bartter syndrome]] types 1, 2, and 4 present at a younger age. They present with symptoms, often quite severe in the neonatal period.
*[[Bartter syndrome]] types 1, 2, and 4 present at a younger age. They present with symptoms, often quite severe in the neonatal period.
*Bartter Syndrome type 3 also called classic [[Bartter Syndrome]] present later in life and maybe sporadically asymptomatic or mildly symptomatic.
*Bartter Syndrome type 3 also called classic [[Bartter syndrome]] present later in life and maybe sporadically asymptomatic or mildly symptomatic.
==References==
==References==
<references />
<references />

Revision as of 19:35, 30 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]

Overview

Classification

  • Bartter Syndrome type 2
  • Bartter Syndrome type 3
  • Bartter Syndrome type 4
  • Bartter Syndrome type 5
Classification of Bartter syndrome on the basis of both genotype and phenotype
Disorder Gene affected Gene product Clinical presentation (phenotype)
Bartter syndrome type I SLC12A1 NKCC2 Antenatal Bartter syndrome (hyperprostaglandin E syndrome)
Bartter syndrome type II KCNJ1 ROMK Antenatal Bartter syndrome
Bartter syndrome type III ClC-Kb CLC-Kb Hypochloremia, mild hypomagnesemia, failure to thrive in infancy
Bartter syndrome type IVA BSND Barttin (B-subunit of CLC-Ka and CLC-Kb) Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness
Bartter syndrome type IVB ClC-Ka and ClC-Kb CLC-Ka and CLC-Kb Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural deafness
Bartter syndrome type V CaSR gene CaSR Bartter syndrome with hypocalcemia


  • Bartter syndrome types 1, 2, and 4 present at a younger age. They present with symptoms, often quite severe in the neonatal period.
  • Bartter Syndrome type 3 also called classic Bartter syndrome present later in life and maybe sporadically asymptomatic or mildly symptomatic.

References

  1. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996). "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2". Nat Genet. 13 (2): 183–8. doi:10.1038/ng0696-183. PMID 8640224.
  2. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H; et al. (1996). "Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK". Nat Genet. 14 (2): 152–6. doi:10.1038/ng1096-152. PMID 8841184.
  3. Lorenz JN, Baird NR, Judd LM, Noonan WT, Andringa A, Doetschman T; et al. (2002). "Impaired renal NaCl absorption in mice lacking the ROMK potassium channel, a model for type II Bartter's syndrome". J Biol Chem. 277 (40): 37871–80. doi:10.1074/jbc.M205627200. PMID 12122007.
  4. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R; et al. (1997). "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III". Nat Genet. 17 (2): 171–8. doi:10.1038/ng1097-171. PMID 9326936.
  5. Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R; et al. (2000). "Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome". J Am Soc Nephrol. 11 (8): 1449–59. PMID 10906158.
  6. Krämer BK, Bergler T, Stoelcker B, Waldegger S (2008). "Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance". Nat Clin Pract Nephrol. 4 (1): 38–46. doi:10.1038/ncpneph0689. PMID 18094726.