Hypomagnesemia [14 genes]

Hereditary hypomagnesemia encompasses a heterogeneous group of recessive as well as dominant disorders where magnesium homeostatis is altered. Approximately 95% of filtered magnesium is reabsorbed in nephrons;
however, some defects in genes that encode chlorine and potassium channels and in genes related to magnesium metabolism can lead to metabolic imbalance and massive loss of this electrolyte. Among the genetic disorders that cause hereditary hypomagnesemia are familial hypomagnesemia with hypercalciuria, Bartter syndrome, Gitelman syndrome, mitochondrial hypomagnesemia, and other metabolic syndromes.

  • Hypomagnesemia (<1,8 mg/dL)
  • Abdominal pain
  • Tubular acidosis
  • Astigmatism
  • Hematuria
  • Hypercalciuria
  • Polyuria
  • Nephrocalcinosis, nephrolithiasis, kidney failure
  • Muscle weakness
  • Spasticity and stiffness

Estimated prevalence: 1/40,000

  • Dietary magnesium supplements
  • Intravenous administration of magnesium
  • Genetic counseling

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Hypomagnesemia

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110422

Hypomagnesemia: View panel
  • CLCN5
  • CLDN16
  • CLDN19
  • CNNM2
  • EGF
  • FXYD2
  • HNF1B
  • KCNA1
  • KCNJ1
  • KCNJ10
  • PCBD1
  • SARS2
  • SLC12A3
  • TRPM6

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Gragossian A, Friede R. Hypomagnesemia. 2020 Jan 8. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. PubMed PMID: 29763179.
  2. Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D. Genetic causes of hypomagnesemia, a clinical overview. Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27. Review. PubMed PMID: 27234911; PubMed Central PMCID: PMC5440500.
  3. Knoers NV. Inherited forms of renal hypomagnesemia: an update. Pediatr Nephrol. 2009 Apr;24(4):697-705. doi: 10.1007/s00467-008-0968-x. Epub 2008 Sep 26. Review. PubMed PMID: 18818955.