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Bartter syndrome with hypocalcemia

MedGen UID:
1645787
•Concept ID:
C4552089
•
Disease or Syndrome
Synonym: Hypocalcemia, autosomal dominant 1, with bartter syndrome
 
Monarch Initiative: MONDO:0016983
OMIM®: 601198; 601199
Orphanet: ORPHA263417

Definition

Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) [from MONDO]

Professional guidelines

PubMed

Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
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

Recent clinical studies

Etiology

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Assadi F, Faghihi T
Nephrology (Carlton) 2024 Dec;29(12):781-790. Epub 2024 Nov 5 doi: 10.1111/nep.14373. PMID: 39497582
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
London S, Levine MA, Li D, Spiegel R, Lebel A, Halevy R, Tenenbaum-Rakover Y
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1679-e1688. doi: 10.1210/clinem/dgab821. PMID: 34751387
Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J, Czirják G, Enyedi P, Tóth M
Endocrine 2021 Mar;71(3):611-617. Epub 2021 Feb 2 doi: 10.1007/s12020-021-02620-5. PMID: 33528764Free PMC Article
Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
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
Mechanisms and causes of hypomagnesemia.
Agus ZS
Curr Opin Nephrol Hypertens 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. PMID: 27219040

Diagnosis

Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
London S, Levine MA, Li D, Spiegel R, Lebel A, Halevy R, Tenenbaum-Rakover Y
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1679-e1688. doi: 10.1210/clinem/dgab821. PMID: 34751387
Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J, Czirják G, Enyedi P, Tóth M
Endocrine 2021 Mar;71(3):611-617. Epub 2021 Feb 2 doi: 10.1007/s12020-021-02620-5. PMID: 33528764Free 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
Bartter's and Gitelman's syndromes: from gene to clinic.
Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D
Nephron Physiol 2004;96(3):p65-78. doi: 10.1159/000076752. PMID: 15056980
Magnesium deficiency: pathophysiologic and clinical overview.
al-Ghamdi SM, Cameron EC, Sutton RA
Am J Kidney Dis 1994 Nov;24(5):737-52. doi: 10.1016/s0272-6386(12)80667-6. PMID: 7977315

Therapy

Antibiotic-induced Bartter-like syndrome: a systematic review.
Priyadarshi M, Paul SS, Sikdar S, Wig N, Soneja M
J Antimicrob Chemother 2025 Jul 1;80(7):1784-1791. doi: 10.1093/jac/dkaf154. PMID: 40397459
Acquired Bartter-like syndrome associated with colistin use in an adult patient: a case report.
Sari A, Fadavipour M, Hashemi S
CEN Case Rep 2024 Dec;13(6):557-560. Epub 2024 May 21 doi: 10.1007/s13730-024-00891-1. PMID: 38771479Free PMC Article
Mechanisms and causes of hypomagnesemia.
Agus ZS
Curr Opin Nephrol Hypertens 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. PMID: 27219040
Acquired bartter-like syndrome associated with gentamicin administration.
Chou CL, Chen YH, Chau T, Lin SH
Am J Med Sci 2005 Mar;329(3):144-9. doi: 10.1097/00000441-200503000-00007. PMID: 15767821
Gentamicin-induced Bartter-like syndrome.
Landau D, Kher KK
Pediatr Nephrol 1997 Dec;11(6):737-40. doi: 10.1007/s004670050378. PMID: 9438655

Prognosis

A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Assadi F, Faghihi T
Nephrology (Carlton) 2024 Dec;29(12):781-790. Epub 2024 Nov 5 doi: 10.1111/nep.14373. PMID: 39497582
A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.
Yaprak D, Kara H, Calisici E, Karagöl BS, Altan M
Birth Defects Res 2023 Oct 15;115(17):1674-1679. Epub 2023 Aug 16 doi: 10.1002/bdr2.2235. PMID: 37587715
Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemia.
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
Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome.
Singh PJ, Nash JL, Santella RN, Zawada ET Jr
S D J Med 1999 Oct;52(10):377-80. PMID: 10546515
Gentamicin-induced Bartter-like syndrome.
Landau D, Kher KK
Pediatr Nephrol 1997 Dec;11(6):737-40. doi: 10.1007/s004670050378. PMID: 9438655

Clinical prediction guides

Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.
Kanda J, Kanda S, Hayashi Y, Nozu K, Ariji S, Shimoda M, Ono M, Kanda S, Yokoyama S, Takahashi K
Nephrology (Carlton) 2024 Mar;29(3):164-167. Epub 2023 Dec 7 doi: 10.1111/nep.14261. PMID: 38062639
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes.
Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G
J Pediatr 1992 Jan;120(1):38-43. doi: 10.1016/s0022-3476(05)80594-3. PMID: 1731022
Bartter's syndrome. Differentiation into two clinical groups.
Robson WL, Arbus GS, Balfe JW
Am J Dis Child 1979 Jun;133(6):636-8. PMID: 35973

Recent systematic reviews

Antibiotic-induced Bartter-like syndrome: a systematic review.
Priyadarshi M, Paul SS, Sikdar S, Wig N, Soneja M
J Antimicrob Chemother 2025 Jul 1;80(7):1784-1791. doi: 10.1093/jac/dkaf154. PMID: 40397459
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
Charoenngam N, Wattanachayakul P, Mannstadt M
J Clin Endocrinol Metab 2025 Jan 21;110(2):297-302. doi: 10.1210/clinem/dgae769. PMID: 39484850

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