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Bartter syndrome with hypocalcemia(HYPOC1)

MedGen UID:
811594
•Concept ID:
C3715128
•
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

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
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.
Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N, Ishimori S, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Ninchoji T, Morioka I, Nagase H, Taniguchi-Ikeda M, Kaito H, Iijima K
J Hum Genet 2018 Jul;63(8):887-892. Epub 2018 May 30 doi: 10.1038/s10038-018-0470-7. PMID: 29849040
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
Type-5 Bartter syndrome presenting with metabolic seizure in adulthood.
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
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

Therapy

Colistin-induced acquired Bartter-like syndrome: an unusual cause of meltdown.
Tabish M, Mahendran M, Ray A, Vikram NK
BMJ Case Rep 2020 Feb 5;13(2) doi: 10.1136/bcr-2019-232630. PMID: 32029515Free 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 colistin use in a preterm infant.
Cakir U, Alan S, Zeybek C, Erdeve O, Atasay B, Yalcinkaya F, Arsan S
Ren Fail 2013;35(3):411-3. Epub 2013 Jan 24 doi: 10.3109/0886022X.2012.761084. PMID: 23342992
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
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
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
Renal sodium handling study in an atypical case of Bartter's syndrome associated with mitochondriopathy and sensorineural blindness.
Menegon LF, Amaral TN, Gontijo JA
Ren Fail 2004 Mar;26(2):195-7. doi: 10.1081/jdi-120038522. PMID: 15287206
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

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