Bartter Syndrome Questions & Answers

1. Bartter FC, Pronove P, Gill JR. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. American Journal of Medicine. 1962. 33:811-828.

2. Bokhari SRA, Zulfiqar H, Mansur A. Bartter Syndrome. 2023 Jan. [QxMD MEDLINE Link]. [Full Text].

3. Cunha TDS, Heilberg IP. Bartter syndrome: causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis. 2018. 11:291-301. [QxMD MEDLINE Link]. [Full Text].

4. Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010 Jun. 8(1):38-50. [QxMD MEDLINE Link]. [Full Text].

5. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008 Oct. 4(10):560-7. [QxMD MEDLINE Link].

6. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002 Aug 31. 360(9334):692-4. [QxMD MEDLINE Link].

7. Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr. 2012 Feb. 8 (1):25-30. [QxMD MEDLINE Link].

8. Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, et al. Clinical and Genetic Spectrum of Bartter Syndrome Type 3. J Am Soc Nephrol. 2017 Aug. 28 (8):2540-2552. [QxMD MEDLINE Link].

9. Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, et al. Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12. 374 (19):1853-63. [QxMD MEDLINE Link].

10. Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F et al. Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. Clin J Am Soc Nephrol. 2018 Feb 7. 13 (2):242-250. [QxMD MEDLINE Link].

11. Chen YH, Lin JJ, Jeansonne BG, et al. Analysis of claudin genes in pediatric patients with Bartter's syndrome. Ann N Y Acad Sci. 2009 May. 1165:126-34. [QxMD MEDLINE Link].

12. Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, et al. Long-term follow-up of patients with Bartter syndrome type I and II. Nephrol Dial Transplant. 2010 Sep. 25(9):2976-81. [QxMD MEDLINE Link].

13. Halperin D, Dolgin V, Geylis M, Drabkin M, Yogev Y, Wormser O, et al. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. Ann Hum Genet. 2019 Apr 12. [QxMD MEDLINE Link].

14. Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, et al. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. Endocrine. 2019 Feb 21. [QxMD MEDLINE Link].

15. Deschênes G, Fila M. Primary molecular disorders and secondary biological adaptations in bartter syndrome. Int J Nephrol. 2011. 2011:396209. [QxMD MEDLINE Link]. [Full Text].

16. Brambilla I, Poddighe D, Semeria Mantelli S, Guarracino C, Marseglia GL. Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation. Pediatr Int. 2019 Feb. 61 (2):193-197. [QxMD MEDLINE Link].

17. Janssen AG, Scholl U, Domeyer C, et al. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol. 2009 Jan. 20(1):145-53. [QxMD MEDLINE Link]. [Full Text].

18. Kitanaka S, Sato U, Maruyama K, Igarashi T. A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. Pediatr Nephrol. 2006 Feb. 21(2):190-3. [QxMD MEDLINE Link].

19. Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F. Type IV Bartter syndrome: report of two new cases. Pediatr Nephrol. 2006 Jun. 21(6):766-70. [QxMD MEDLINE Link].

20. Birkenhäger R, Otto E, Schürmann MJ, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov. 29(3):310-4. [QxMD MEDLINE Link].

21. García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol. 2006 May. 21(5):643-8. [QxMD MEDLINE Link].

22. Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008 Jan. 4(1):38-46. [QxMD MEDLINE Link].

23. Gunn IR, Gaffney D. Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review. Ann Clin Biochem. 2004 Nov. 41:441-58. [QxMD MEDLINE Link].

24. Madrigal G, Saborio P, Mora F, Rincon G, Guay-Woodford LM. Bartter syndrome in Costa Rica: a description of 20 cases. Pediatr Nephrol. 1997 Jun. 11(3):296-301. [QxMD MEDLINE Link].

25. Abdel-al YK, Badawi MH, Yaeesh SA, Habib YQ, al-Khuffash FA, al-Ghanim MM, et al. Bartter's syndrome in Arabic children: review of 13 cases. Pediatr Int. 1999 Jun. 41 (3):299-303. [QxMD MEDLINE Link].

26. Rudin A. Bartter's syndrome. A review of 28 patients followed for 10 years. Acta Med Scand. 1988. 224(2):165-71. [QxMD MEDLINE Link].

27. Fallen K, Banerjee S, Sheehan J, et al. The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating. Channels (Austin). 2009 Jan-Feb. 3(1):57-68. [QxMD MEDLINE Link]. [Full Text].

28. Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal Pediatr Pathol. 2010. 29(3):121-6. [QxMD MEDLINE Link].

29. Choi N, Kim SH, Bae EH, Yang EM, Lee GH, Lee SH, et al. Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea. Front Med (Lausanne). 2023. 10:1099840. [QxMD MEDLINE Link]. [Full Text].

30. Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29. 414(6863):558-61. [QxMD MEDLINE Link].

31. Mumford E, Unwin RJ, Walsh SB. Liquorice, Liddle, Bartter or Gitelman-how to differentiate?. Nephrol Dial Transplant. 2018 Jul 2. [QxMD MEDLINE Link].

32. Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, et al. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med. 2015 Apr 16. [QxMD MEDLINE Link].

33. Mantoo MR, Kabra M, Kabra SK. Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!. Indian J Pediatr. 2020 Sep. 87 (9):726-732. [QxMD MEDLINE Link].

34. Assadi F. Diagnosis of hypokalemia: a problem-solving approach to clinical cases. Iran J Kidney Dis. 2008 Jul. 2 (3):115-22. [QxMD MEDLINE Link]. [Full Text].

35. Verploegen MFA, Vargas-Poussou R, Walsh SB, et al. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. Nephrol Dial Transplant. 2022 Nov 23. 37 (12):2474-2486. [QxMD MEDLINE Link]. [Full Text].

36. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997 Oct. 17(2):171-8. [QxMD MEDLINE Link].

37. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996 Jun. 13(2):183-8. [QxMD MEDLINE Link].

38. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996 Oct. 14(2):152-6. [QxMD MEDLINE Link].

39. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996 Jan. 12(1):24-30. [QxMD MEDLINE Link].

40. Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, et al. Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Endocr J. 2007. 54(6):1003-7. [QxMD MEDLINE Link].

41. Aoi N, Nakayama T, Tahira Y, Haketa A, Yabuki M, Sekiyama T, et al. Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. Endocrine. 2007 Apr. 31(2):149-53. [QxMD MEDLINE Link].

42. Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol. 2007 May. 2 (3):454-60. [QxMD MEDLINE Link]. [Full Text].

43. Jiang L, Peng X, Ma J, Yuan T, Qin Y, Wang O, et al. NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS. Endocr Pract. 2015 Jun 29. [QxMD MEDLINE Link].

44. Narayan R, Peres M, Kesby G. Diagnosis of antenatal Bartter syndrome. Clin Exp Obstet Gynecol. 2016. 43 (3):453-4. [QxMD MEDLINE Link].

45. Walsh SB, Unwin E, Vargas-Poussou R, Houillier P, Unwin R. Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome. QJM. 2011 Nov. 104(11):939-44. [QxMD MEDLINE Link].

46. Dane B, Yayla M, Dane C, Cetin A. Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. Fetal Diagn Ther. 2007. 22(3):206-8. [QxMD MEDLINE Link].

47. Yang X, Zhang G, Wang M, Yang H, Li Q. Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. Front Pediatr. 2018. 6:153. [QxMD MEDLINE Link]. [Full Text].

48. Chaudhuri A, Salvatierra O Jr, Alexander SR, Sarwal MM. Option of pre-emptive nephrectomy and renal transplantation for Bartter's syndrome. Pediatr Transplant. 2006 Mar. 10(2):266-70. [QxMD MEDLINE Link].

49. [Guideline] Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int. 2021 Feb. 99 (2):324-335. [QxMD MEDLINE Link]. [Full Text].

Lynda A Frassetto, MD Clinical Professor, Department of Internal Medicine, University of California, San Francisco, School of Medicine

Lynda A Frassetto, MD is a member of the following medical societies: American College of Physicians, American Society of Nephrology

Disclosure: Nothing to disclose.

Lowell J Lo, MD Assistant Clinical Professor, Division of Nephrology, Department of Medicine, University of California, San Francisco, School of Medicine; Renal Ambulatory Service and Practice Chief, Medical Director, Mount Zion Dialysis Unit

Lowell J Lo, MD is a member of the following medical societies: American College of Physicians, American Medical Association, American Society of Nephrology, National Kidney Foundation

Disclosure: Nothing to disclose.

Vecihi Batuman, MD, FASN Professor of Medicine, Section of Nephrology-Hypertension, Deming Department of Medicine, Tulane University School of Medicine

Vecihi Batuman, MD, FASN is a member of the following medical societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Uri S Alon, MD Director of Bone and Mineral Disorders Clinic and Renal Research Laboratory, Children's Mercy Hospital of Kansas City; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri-Kansas City School of Medicine

Uri S Alon, MD is a member of the following medical societies: American Federation for Medical Research

Disclosure: Nothing to disclose.

George R Aronoff, MD Director, Professor, Departments of Internal Medicine and Pharmacology, Section of Nephrology, Kidney Disease Program, University of Louisville School of Medicine

George R Aronoff, MD is a member of the following medical societies: American Federation for Medical Research, American Society of Nephrology, Kentucky Medical Association, and National Kidney Foundation

Disclosure: Nothing to disclose.

Prasad Devarajan, MD Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, CEO of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Prasad Devarajan, MD is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Abubakr Imam, MD Assistant Professor of Pediatrics, Department of Pediatrics, Division of Pediatric Nephrology, Wayne State University School of Medicine, Children's Hospital of Michigan

Disclosure: Nothing to disclose.

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, Children's Memorial Hospital

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology

Disclosure: NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

Adrian Spitzer, MD Clinical Professor Emeritus, Department of Pediatrics, Albert Einstein College of Medicine

Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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