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Renal Hypomagnesemia, Dominant

MedGen UID:
893348
•Concept ID:
CN239436
•
Disease or Syndrome

Professional guidelines

PubMed

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung J, Lee JH, Park YS, Seo GH, Keum C, Kang HG, Lee H, Lee SK, Lee ST, Cho H, Lee BH
BMC Med Genomics 2021 Jul 3;14(1):177. doi: 10.1186/s12920-021-01026-6. PMID: 34217267Free PMC Article
Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992

Recent clinical studies

Etiology

Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.
Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D
J Am Soc Nephrol 2009 May;20(5):1123-31. Epub 2009 Apr 23 doi: 10.1681/ASN.2008060633. PMID: 19389850Free PMC Article
Genetic renal disorders with hypomagnesemia and hypocalciuria.
Knoers NV, de Jong JC, Meij IC, Van Den Heuvel LP, Bindels RJ
J Nephrol 2003 Mar-Apr;16(2):293-6. PMID: 12768080
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
Meij IC, Koenderink JB, De Jong JC, De Pont JJ, Monnens LA, Van Den Heuvel LP, Knoers NV
Ann N Y Acad Sci 2003 Apr;986:437-43. doi: 10.1111/j.1749-6632.2003.tb07226.x. PMID: 12763862
Hypomagnesaemia of hereditary renal origin.
Rodríguez-Soriano J, Vallo A, García-Fuentes M
Pediatr Nephrol 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. PMID: 3153319

Diagnosis

RRAGD-Associated Autosomal Dominant Kidney Hypomagnesemia with Cardiomyopathy: A Review on the Clinical Manifestations and Therapeutic Options.
Trepiccione F, Sambri I, Ruggiero B, Emma F, Ballabio A, Florio G, Vanderheyden I, Iervolino A, Jouret F
Kidney Blood Press Res 2024;49(1):637-645. Epub 2024 Jun 20 doi: 10.1159/000539889. PMID: 38901414
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF
J Am Soc Nephrol 2021 Nov;32(11):2885-2899. Epub 2021 Oct 4 doi: 10.1681/ASN.2021030333. PMID: 34607910Free PMC Article
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung J, Lee JH, Park YS, Seo GH, Keum C, Kang HG, Lee H, Lee SK, Lee ST, Cho H, Lee BH
BMC Med Genomics 2021 Jul 3;14(1):177. doi: 10.1186/s12920-021-01026-6. PMID: 34217267Free PMC Article
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Tasic V, Gucev Z
Pediatr Endocrinol Rev 2015 Sep;13(1):468-76. PMID: 26540764
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ, Loh NY, Thakker RV
Pediatr Nephrol 2009 Dec;24(12):2321-32. Epub 2008 Apr 30 doi: 10.1007/s00467-008-0807-0. PMID: 18446382Free PMC Article

Therapy

Electrolytes Play a Role in Detecting Cisplatin-Induced Kidney Complications and May Even Prevent Them-Retrospective Analysis.
Alrfaei BM, Almutairi AO, Aljohani AA, Alammar H, Asiri A, Bokhari Y, Aljaser FS, Abudawood M, Halwani M
Medicina (Kaunas) 2023 May 6;59(5) doi: 10.3390/medicina59050890. PMID: 37241122Free PMC Article
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992
Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.
Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr
J Pediatr 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. PMID: 30470382Free PMC Article
Clinical Complications of Continuous Renal Replacement Therapy.
Sigwalt F, Bouteleux A, Dambricourt F, Asselborn T, Moriceau F, Rimmelé T
Contrib Nephrol 2018;194:109-117. Epub 2018 Mar 29 doi: 10.1159/000485608. PMID: 29597222

Prognosis

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW
BMC Endocr Disord 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. PMID: 31660939Free PMC Article
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S
Pediatr Nephrol 2019 Jun;34(6):1065-1075. Epub 2019 Jan 21 doi: 10.1007/s00467-018-4188-8. PMID: 30666461
Genetic renal disorders with hypomagnesemia and hypocalciuria.
Knoers NV, de Jong JC, Meij IC, Van Den Heuvel LP, Bindels RJ
J Nephrol 2003 Mar-Apr;16(2):293-6. PMID: 12768080
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
Meij IC, Koenderink JB, De Jong JC, De Pont JJ, Monnens LA, Van Den Heuvel LP, Knoers NV
Ann N Y Acad Sci 2003 Apr;986:437-43. doi: 10.1111/j.1749-6632.2003.tb07226.x. PMID: 12763862
A phase II study of CI-973 [SP-4-3(R)]-1,1-cyclobutane-dicarboxylato (2-)] (2-methyl-1,4-butanediamine-N, N') platinum in patients with refractory advanced breast cancer.
Theriault RL, Walters RS, Holmes FA, Esparza-Guerra L, Kowal C, Hortobagyi GN
Cancer Chemother Pharmacol 1996;38(3):289-91. doi: 10.1007/s002800050484. PMID: 8646805

Clinical prediction guides

Diseases caused by mutations in the Na(+)/K(+) pump α1 gene ATP1A1.
Biondo ED, Spontarelli K, Ababioh G, Méndez L, Artigas P
Am J Physiol Cell Physiol 2021 Aug 1;321(2):C394-C408. Epub 2021 Jul 7 doi: 10.1152/ajpcell.00059.2021. PMID: 34232746Free PMC Article
The role of transient receptor potential channels in kidney disease.
Woudenberg-Vrenken TE, Bindels RJ, Hoenderop JG
Nat Rev Nephrol 2009 Aug;5(8):441-9. Epub 2009 Jun 23 doi: 10.1038/nrneph.2009.100. PMID: 19546862
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.
Meij IC, Koenderink JB, De Jong JC, De Pont JJ, Monnens LA, Van Den Heuvel LP, Knoers NV
Ann N Y Acad Sci 2003 Apr;986:437-43. doi: 10.1111/j.1749-6632.2003.tb07226.x. PMID: 12763862
New experimental and clinical data on the relationship between magnesium and sport.
Rayssiguier Y, Guezennec CY, Durlach J
Magnes Res 1990 Jun;3(2):93-102. PMID: 2133629
Hypomagnesaemia of hereditary renal origin.
Rodríguez-Soriano J, Vallo A, García-Fuentes M
Pediatr Nephrol 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. PMID: 3153319

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