Bartter Syndrome Clinical Presentation

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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].

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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].

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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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