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Bartter disease type 5(BARTS5)

MedGen UID:
934787
Concept ID:
C4310820
Disease or Syndrome
Synonym: Bartter syndrome, type 5, antenatal, transient
 
Gene (location): MAGED2 (Xp11.21)
 
Monarch Initiative: MONDO:0010503
OMIM®: 300971
Orphanet: ORPHA570371

Definition

Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016). [from OMIM]

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Medullary nephrocalcinosis
MedGen UID:
588418
Concept ID:
C0403477
Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Hypochloremia
MedGen UID:
39088
Concept ID:
C0085680
Disease or Syndrome
An abnormally decreased chloride concentration in the blood.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Fetal polyuria
MedGen UID:
355948
Concept ID:
C1865279
Finding
Abnormally increased production of urine by the fetus resulting in polyhydramnios.
Increased circulating renin level
MedGen UID:
66818
Concept ID:
C0240783
Finding
An increased level of renin in the blood.

Professional guidelines

PubMed

Forbes TA, Wallace J, Kumble S, Delatycki MB, Stark Z
J Paediatr Child Health 2022 May;58(5):758-761. Epub 2022 Mar 29 doi: 10.1111/jpc.15955. PMID: 35348259Free PMC Article
Mayr B, Glaudo M, Schöfl C
Trends Endocrinol Metab 2016 Sep;27(9):643-652. Epub 2016 Jun 20 doi: 10.1016/j.tem.2016.05.005. PMID: 27339034
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Hernández NEG, Pérez LIE, Aguilera D, Camargo-Muñiz MD, Espinosa CFC, Jaramillo MCR, Salvador C, González ZL, Hureaux M, Vargas-Poussou R
Arch Med Res 2023 Sep;54(6):102859. Epub 2023 Jul 27 doi: 10.1016/j.arcmed.2023.102859. PMID: 37516009
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
Mayr B, Glaudo M, Schöfl C
Trends Endocrinol Metab 2016 Sep;27(9):643-652. Epub 2016 Jun 20 doi: 10.1016/j.tem.2016.05.005. PMID: 27339034
Landau D, Gurevich E, Sinai-Treiman L, Shalev H
Pediatr Nephrol 2016 Jul;31(7):1085-90. Epub 2016 Feb 8 doi: 10.1007/s00467-016-3337-1. PMID: 26857709
Sebastian A, Hulter HN, Kurtz I, Maher T, Schambelan M
Am J Med 1982 Feb;72(2):289-307. doi: 10.1016/0002-9343(82)90822-1. PMID: 6277192

Diagnosis

Hussain A, Atlani M, Goyal A, Khurana AK
BMJ Case Rep 2021 Feb 17;14(2) doi: 10.1136/bcr-2020-235349. PMID: 33597159Free PMC Article
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
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
Stechman MJ, Loh NY, Thakker RV
Pediatr Nephrol 2009 Dec;24(12):2321-32. Epub 2008 Apr 30 doi: 10.1007/s00467-008-0807-0. PMID: 18446382Free PMC Article
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Therapy

de Lavillandre JLB, Buron F, Ducroux E, Kanitakis J
Skinmed 2022;20(2):145-148. Epub 2022 Apr 30 PMID: 35532771
Hampton C, Zhou X, Priest BT, Pai LY, Felix JP, Thomas-Fowlkes B, Liu J, Kohler M, Xiao J, Corona A, Price O, Gill C, Shah K, Rasa C, Tong V, Owens K, Ormes J, Tang H, Roy S, Sullivan KA, Metzger JM, Alonso-Galicia M, Kaczorowski GJ, Pasternak A, Garcia ML
J Pharmacol Exp Ther 2016 Oct;359(1):194-206. Epub 2016 Jul 18 doi: 10.1124/jpet.116.235150. PMID: 27432892
Chrispal A, Boorugu H, Prabhakar AT, Moses V
J Postgrad Med 2009 Jul-Sep;55(3):208-10. doi: 10.4103/0022-3859.57407. PMID: 19884751
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F
Pediatr Nephrol 2006 Jun;21(6):766-70. Epub 2006 Apr 1 doi: 10.1007/s00467-006-0090-x. PMID: 16583241

Prognosis

Koumangoye R, Bastarache L, Delpire E
Function (Oxf) 2021;2(1):zqaa028. Epub 2020 Nov 3 doi: 10.1093/function/zqaa028. PMID: 33345190Free PMC Article
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K
Clin Exp Nephrol 2019 Sep;23(9):1119-1129. Epub 2019 May 27 doi: 10.1007/s10157-019-01747-0. PMID: 31131422
Halicioglu O, Akman SA, Sutcuoglu S, Coker I
Minerva Pediatr 2011 Jun;63(3):169-75. PMID: 21654597
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome
Nephrol Dial Transplant 2010 Sep;25(9):2976-81. Epub 2010 Mar 10 doi: 10.1093/ndt/gfq119. PMID: 20219833
Chrispal A, Boorugu H, Prabhakar AT, Moses V
J Postgrad Med 2009 Jul-Sep;55(3):208-10. doi: 10.4103/0022-3859.57407. PMID: 19884751

Clinical prediction guides

Boussetta A, Karray A, Abida N, Jellouli M, Gargah T
Tunis Med 2022 mai;100(5):410-415. PMID: 36206091Free PMC Article
Verploegen MFA, Vargas-Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, Atmis B, Bacchetta J, Bárány P, Baron S, Bayrakci US, Belge H, Besouw M, Blanchard A, Bökenkamp A, Boyer O, Burgmaier K, Calò LA, Decramer S, Devuyst O, van Dyck M, Ferraro PM, Fila M, Francisco T, Ghiggeri GM, Gondra L, Guarino S, Hooman N, Hoorn EJ, Houillier P, Kamperis K, Kari JA, Konrad M, Levtchenko E, Lucchetti L, Lugani F, Marzuillo P, Mohidin B, Neuhaus TJ, Osman A, Papizh S, Perelló M, Rookmaaker MB, Conti VS, Santos F, Sawaf G, Serdaroglu E, Szczepanska M, Taroni F, Topaloglu R, Trepiccione F, Vidal E, Wan ER, Weber L, Yildirim ZY, Yüksel S, Zlatanova G, Bockenhauer D, Emma F, Nijenhuis T
Nephrol Dial Transplant 2022 Nov 23;37(12):2474-2486. doi: 10.1093/ndt/gfac029. PMID: 35137195Free PMC Article
Koumangoye R, Bastarache L, Delpire E
Function (Oxf) 2021;2(1):zqaa028. Epub 2020 Nov 3 doi: 10.1093/function/zqaa028. PMID: 33345190Free PMC Article
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K
Clin Exp Nephrol 2019 Sep;23(9):1119-1129. Epub 2019 May 27 doi: 10.1007/s10157-019-01747-0. PMID: 31131422
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

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