U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bartter syndrome, type 3, with hypocalciuria

MedGen UID:
335400
•Concept ID:
C1846344
•
Disease or Syndrome
Synonym: Bartter Syndrome, Type 3, with Hypocalciuria
 
OMIM®: 602023; 607364

Professional guidelines

PubMed

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, García Nieto V, Barajas de Frutos D, Loza R, Pintos G, Castaño L; RenalTube Group, Ariceta G
PLoS One 2017;12(3):e0173581. Epub 2017 Mar 13 doi: 10.1371/journal.pone.0173581. PMID: 28288174Free PMC Article
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K
Genet Med 2016 Feb;18(2):180-8. Epub 2015 Apr 16 doi: 10.1038/gim.2015.56. PMID: 25880437

Recent clinical studies

Etiology

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R
J Am Soc Nephrol 2017 Aug;28(8):2540-2552. Epub 2017 Apr 5 doi: 10.1681/ASN.2016101057. PMID: 28381550Free PMC Article
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, García Nieto V, Barajas de Frutos D, Loza R, Pintos G, Castaño L; RenalTube Group, Ariceta G
PLoS One 2017;12(3):e0173581. Epub 2017 Mar 13 doi: 10.1371/journal.pone.0173581. PMID: 28288174Free PMC Article
Early appearance of hypokalemia in Gitelman syndrome.
Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, Tedeschi S, Bianchetti MG
Pediatr Nephrol 2010 Oct;25(10):2179-82. Epub 2010 Jun 16 doi: 10.1007/s00467-010-1575-1. PMID: 20552229
Gitelman syndrome.
Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article

Diagnosis

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K
Pediatr Int 2020 Apr;62(4):428-437. Epub 2020 Apr 13 doi: 10.1111/ped.14089. PMID: 31830341
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R
J Am Soc Nephrol 2017 Aug;28(8):2540-2552. Epub 2017 Apr 5 doi: 10.1681/ASN.2016101057. PMID: 28381550Free PMC Article
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC
Orphanet J Rare Dis 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. PMID: 28122587Free PMC Article
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K
Genet Med 2016 Feb;18(2):180-8. Epub 2015 Apr 16 doi: 10.1038/gim.2015.56. PMID: 25880437
Gitelman syndrome.
Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article

Therapy

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.
Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, Kamiyoshi N, Ohtsubo H, Ninchoji T, Minamikawa S, Yamamura T, Nakanishi K, Yoshikawa N, Shima Y, Kaito H, Iijima K
Genet Med 2016 Feb;18(2):180-8. Epub 2015 Apr 16 doi: 10.1038/gim.2015.56. PMID: 25880437

Prognosis

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.
Dong B, Chen Y, Liu X, Wang Y, Wang F, Zhao Y, Sun X, Zhao W
BMC Nephrol 2020 Aug 5;21(1):328. doi: 10.1186/s12882-020-01996-2. PMID: 32758178Free PMC Article
Gitelman syndrome.
Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article

Clinical prediction guides

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.
Dong B, Chen Y, Liu X, Wang Y, Wang F, Zhao Y, Sun X, Zhao W
BMC Nephrol 2020 Aug 5;21(1):328. doi: 10.1186/s12882-020-01996-2. PMID: 32758178Free PMC Article
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R
J Am Soc Nephrol 2017 Aug;28(8):2540-2552. Epub 2017 Apr 5 doi: 10.1681/ASN.2016101057. PMID: 28381550Free PMC Article
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid Á, Chocrón S, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, García Nieto V, Barajas de Frutos D, Loza R, Pintos G, Castaño L; RenalTube Group, Ariceta G
PLoS One 2017;12(3):e0173581. Epub 2017 Mar 13 doi: 10.1371/journal.pone.0173581. PMID: 28288174Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...