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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.
See: Feature record | Search on this feature
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.
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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.
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Hypomagnesemia
MedGen UID:
57481
•Concept ID:
C0151723
•
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
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
Does fludrocortisone treatment cause hypomagnesemia in children with primary adrenal insufficiency?
Erbaş İM, Altincik SA, Çatli G, Ünüvar T, Özhan B, Abaci A, Anik A
Turk J Med Sci 2021 Feb 26;51(1):231-237. doi: 10.3906/sag-2008-167. PMID: 33155789Free PMC Article
Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: presentations, causes, and treatment strategies.
Hamed SA
Expert Rev Clin Pharmacol 2019 Jan;12(1):61-90. Epub 2019 Jan 11 doi: 10.1080/17512433.2019.1555468. PMID: 30501441

Recent clinical studies

Etiology

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
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
Proton Pump Inhibitors and the Kidney: Implications of Current Evidence for Clinical Practice and When and How to Deprescribe.
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
Hungry bone syndrome.
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Cabozantinib versus everolimus in advanced renal cell carcinoma (METEOR): final results from a randomised, open-label, phase 3 trial.
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
Amphotericin B: side effects and toxicity.
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

Diagnosis

Physiology of a Forgotten Electrolyte-Magnesium Disorders.
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
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
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
Proton Pump Inhibitors and the Kidney: Implications of Current Evidence for Clinical Practice and When and How to Deprescribe.
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
Hungry bone syndrome.
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Hypoparathyroidism.
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

Therapy

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
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
Proton Pump Inhibitors and the Kidney: Implications of Current Evidence for Clinical Practice and When and How to Deprescribe.
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
Hungry bone syndrome.
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Cabozantinib versus everolimus in advanced renal cell carcinoma (METEOR): final results from a randomised, open-label, phase 3 trial.
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
Amphotericin B: side effects and toxicity.
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

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ
Sci Rep 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. PMID: 38519529Free PMC Article
Electrolyte Imbalance in Anti-LGI1 Encephalitis: It Is Not All in Your Head.
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
Cabozantinib versus everolimus in advanced renal cell carcinoma (METEOR): final results from a randomised, open-label, phase 3 trial.
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
Hypomagnesemia and mortality in patients admitted to intensive care unit: a systematic review and meta-analysis.
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
Epidemiology of gout and chondrocalcinosis.
Ciancio G, Bortoluzzi A, Govoni M
Reumatismo 2012 Jan 19;63(4):207-20. doi: 10.4081/reumatismo.2011.207. PMID: 22303527

Clinical prediction guides

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ
Sci Rep 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. PMID: 38519529Free PMC Article
Subcutaneous Fat Necrosis of the Newborn.
Soua Y, Hamouda H, Njima M, Ghanmi S, Soua H, Zili J
Skinmed 2021;19(5):392-394. Epub 2021 Oct 1 PMID: 34861924
Hypomagnesemia and mortality in patients admitted to intensive care unit: a systematic review and meta-analysis.
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
Bartter and related syndromes: the puzzle is almost solved.
Rodríguez-Soriano J
Pediatr Nephrol 1998 May;12(4):315-27. doi: 10.1007/s004670050461. PMID: 9655365
Cisplatin nephrotoxicity.
Fillastre JP, Raguenez-Viotte G
Toxicol Lett 1989 Mar;46(1-3):163-75. doi: 10.1016/0378-4274(89)90125-2. PMID: 2650023

Recent systematic reviews

Long-term cisplatin nephrotoxicity after childhood cancer: a systematic review and meta-analysis.
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
Relationship between Proton Pump Inhibitors and Adverse Effects in Hemodialysis Patients: A Systematic Review and Meta-Analysis.
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
The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
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
Hypomagnesemia and mortality in patients admitted to intensive care unit: a systematic review and meta-analysis.
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
Early and late renal adverse effects after potentially nephrotoxic treatment for childhood cancer.
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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