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Renal hypomagnesemia 4(HOMG4)

MedGen UID:
388692
Concept ID:
C2673648
Disease or Syndrome
Synonym: HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
 
Gene (location): EGF (4q25)
 
Monarch Initiative: MONDO:0012717
OMIM®: 611718

Definition

Primary hypomagnesemia comprises a rare heterogeneous group of disorders characterized by renal or intestinal magnesium wasting that results in symptoms of magnesium depletion such as tetany and seizures. Renal hypomagnesemia-4 (HOMG4) is characterized by low serum magnesium levels, decreased urinary tubular magnesium reabsorption, seizures with onset in early infancy, and moderately impaired intellectual development (summary by Geven et al., 1987; Groenestege et al., 2007). For a discussion of genetic heterogeneity of hypomagnesemia, see 602014. [from OMIM]

Clinical features

From HPO
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.

Professional guidelines

PubMed

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Hamed SA
Expert Rev Clin Pharmacol 2019 Jan;12(1):61-90. Epub 2019 Jan 11 doi: 10.1080/17512433.2019.1555468. PMID: 30501441
Knijnenburg SL, Mulder RL, Schouten-Van Meeteren AY, Bökenkamp A, Blufpand H, van Dulmen-den Broeder E, Veening MA, Kremer LC, Jaspers MW
Cochrane Database Syst Rev 2013 Oct 8;(10):CD008944. doi: 10.1002/14651858.CD008944.pub2. PMID: 24101439

Recent clinical studies

Etiology

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Al-Aly Z, Maddukuri G, Xie Y
Am J Kidney Dis 2020 Apr;75(4):497-507. Epub 2019 Oct 10 doi: 10.1053/j.ajkd.2019.07.012. PMID: 31606235
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Laniado-Laborín R, Cabrales-Vargas MN
Rev Iberoam Micol 2009 Dec 31;26(4):223-7. doi: 10.1016/j.riam.2009.06.003. PMID: 19836985
Yasuda T, Niimi H
Acta Paediatr Jpn 1997 Aug;39(4):485-90. doi: 10.1111/j.1442-200x.1997.tb03625.x. PMID: 9316298

Diagnosis

Ray E, Mohan K, Ahmad S, Wolf MTF
Adv Kidney Dis Health 2023 Mar;30(2):148-163. doi: 10.1053/j.akdh.2022.12.001. PMID: 36868730Free PMC Article
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Al-Aly Z, Maddukuri G, Xie Y
Am J Kidney Dis 2020 Apr;75(4):497-507. Epub 2019 Oct 10 doi: 10.1053/j.ajkd.2019.07.012. PMID: 31606235
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Yasuda T, Niimi H
Acta Paediatr Jpn 1997 Aug;39(4):485-90. doi: 10.1111/j.1442-200x.1997.tb03625.x. PMID: 9316298

Therapy

Rosner MH, Ha N, Palmer BF, Perazella MA
Mayo Clin Proc 2023 Apr;98(4):581-596. Epub 2023 Mar 3 doi: 10.1016/j.mayocp.2022.12.002. PMID: 36872194
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Al-Azem H, Khan AA
Best Pract Res Clin Endocrinol Metab 2012 Aug;26(4):517-22. Epub 2012 May 31 doi: 10.1016/j.beem.2012.01.004. PMID: 22863393
Laniado-Laborín R, Cabrales-Vargas MN
Rev Iberoam Micol 2009 Dec 31;26(4):223-7. doi: 10.1016/j.riam.2009.06.003. PMID: 19836985

Prognosis

Gadoth A, Nisnboym M, Alcalay Y, Zubkov A, Schwartz I, Schwartz D, Abboud M, Rubinek T, Yossepowitch O, Weinstein T
Neurol Neuroimmunol Neuroinflamm 2023 Nov;10(6) Epub 2023 Aug 17 doi: 10.1212/NXI.0000000000200155. PMID: 37591767Free PMC Article
Choueiri TK, Escudier B, Powles T, Tannir NM, Mainwaring PN, Rini BI, Hammers HJ, Donskov F, Roth BJ, Peltola K, Lee JL, Heng DYC, Schmidinger M, Agarwal N, Sternberg CN, McDermott DF, Aftab DT, Hessel C, Scheffold C, Schwab G, Hutson TE, Pal S, Motzer RJ; METEOR investigators
Lancet Oncol 2016 Jul;17(7):917-927. Epub 2016 Jun 5 doi: 10.1016/S1470-2045(16)30107-3. PMID: 27279544
Upala S, Jaruvongvanich V, Wijarnpreecha K, Sanguankeo A
QJM 2016 Jul;109(7):453-459. Epub 2016 Mar 24 doi: 10.1093/qjmed/hcw048. PMID: 27016536
Ciancio G, Bortoluzzi A, Govoni M
Reumatismo 2012 Jan 19;63(4):207-20. doi: 10.4081/reumatismo.2011.207. PMID: 22303527
Landau D, Kher KK
Pediatr Nephrol 1997 Dec;11(6):737-40. doi: 10.1007/s004670050378. PMID: 9438655

Clinical prediction guides

Upala S, Jaruvongvanich V, Wijarnpreecha K, Sanguankeo A
QJM 2016 Jul;109(7):453-459. Epub 2016 Mar 24 doi: 10.1093/qjmed/hcw048. PMID: 27016536
Stahlmann R, Lode H
Drugs Aging 2003;20(4):289-302. doi: 10.2165/00002512-200320040-00005. PMID: 12641485
Rodríguez-Soriano J
Pediatr Nephrol 1998 May;12(4):315-27. doi: 10.1007/s004670050461. PMID: 9655365
Fillastre JP, Raguenez-Viotte G
Toxicol Lett 1989 Mar;46(1-3):163-75. doi: 10.1016/0378-4274(89)90125-2. PMID: 2650023
Barton CH, Vaziri ND, Martin DC, Choi S, Alikhani S
Am J Med 1987 Oct;83(4):693-9. doi: 10.1016/0002-9343(87)90900-4. PMID: 3314493

Recent systematic reviews

Schofield J, Harcus M, Pizer B, Jorgensen A, McWilliam S
Pediatr Nephrol 2024 Mar;39(3):699-710. Epub 2023 Sep 20 doi: 10.1007/s00467-023-06149-9. PMID: 37726572Free PMC Article
Zhang Y, Deng D, Zhang R, Yi J, Dong J, Sha L
Kidney Blood Press Res 2022;47(9):545-555. Epub 2022 Jul 25 doi: 10.1159/000526122. PMID: 35878597
Ge S, Yang M, Cui Y, Wu J, Xu L, Dong J, Liao L
Front Endocrinol (Lausanne) 2022;13:911526. Epub 2022 Jun 30 doi: 10.3389/fendo.2022.911526. PMID: 35846334Free PMC Article
Upala S, Jaruvongvanich V, Wijarnpreecha K, Sanguankeo A
QJM 2016 Jul;109(7):453-459. Epub 2016 Mar 24 doi: 10.1093/qjmed/hcw048. PMID: 27016536
Knijnenburg SL, Mulder RL, Schouten-Van Meeteren AY, Bökenkamp A, Blufpand H, van Dulmen-den Broeder E, Veening MA, Kremer LC, Jaspers MW
Cochrane Database Syst Rev 2013 Oct 8;(10):CD008944. doi: 10.1002/14651858.CD008944.pub2. PMID: 24101439

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