U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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]

Term Hierarchy

Follow this link to review classifications for Bartter syndrome with hypocalcemia in Orphanet.

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

Mechanisms and causes of hypomagnesemia.
Agus ZS
Curr Opin Nephrol Hypertens 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. PMID: 27219040
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
Magnesium supplementation in Gitelman syndrome.
Bettinelli A, Basilico E, Metta MG, Borella P, Jaeger P, Bianchetti MG
Pediatr Nephrol 1999 May;13(4):311-4. doi: 10.1007/s004670050615. PMID: 10454780
Gentamicin-induced Bartter-like syndrome.
Landau D, Kher KK
Pediatr Nephrol 1997 Dec;11(6):737-40. doi: 10.1007/s004670050378. PMID: 9438655
Chronic laxative abusers with pseudo-idiopathic oedema and autonomous pseudo-Bartter's syndrome. A spectrum of metabolic madness, or new lights on an old disease?
Meyers AM, Feldman C, Sonnekus MI, Ninin DT, Margolius LP, Whalley NA
S Afr Med J 1990 Dec 1;78(11):631-6. PMID: 2251604

Prognosis

Gitelman's Syndrome Presenting with Hypocalcaemia - A Case Report.
Cader FA, Kabir A, Mayedah R, Masud MS, Quadir F, Hossen MN
Mymensingh Med J 2015 Apr;24(2):411-5. PMID: 26007276
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...