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An infant with recurrent convulsive seizures of 3 weeks’ duration: Answers

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References

  1. Shalev H, Phillip M, Galil A, Carmi R, Landau D (1998) Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 78:127–130

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  2. Milla PJ, Aggett PJ, Wolff OH, Harries JT (1979) Studies in primary hypomagnesaemia: evidence for defective carrier mediated small intestinal transport of magnesium. Gut 20:1028–1033

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  3. Schlingmann KP, Konrad M, Seyberth HW (2004) Genetics of hereditary disorders of magnesium homeostasis. Pediatr Nephrol 19:13–25

    Article  PubMed  Google Scholar 

  4. Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41:385–402

    PubMed  CAS  Google Scholar 

  5. Prebble JJ (1995) Primary infantile hypomagnesaemia: report of two cases. J Paediatr Child Health 31:54–56

    Article  PubMed  CAS  Google Scholar 

  6. Smales OR (1974) Primary infantile hypomagnesaemia. Proc R Soc Med 67:759–760

    PubMed  CAS  PubMed Central  Google Scholar 

  7. Al-Elq AH (2008) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters. Saudi Med J 29:447–451

    PubMed  Google Scholar 

  8. Visudhiphan P, Visudtibhan A, Chiemchanya S, Khongkhatithum C (2005) Neonatal seizures and familial hypomagnesemia with secondary hypocalcemia. Pediatr Neurol 33:202–205

    Article  PubMed  Google Scholar 

  9. Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M (2005) Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6. J Am Soc Nephrol 16:3061–3069

    Article  PubMed  Google Scholar 

  10. Carrazza FR, Souza MS, Romaldini C, Feferbaun R, Diniz EA (2000) Magnesium metabolism in chronic primary hypomagnesemia. J Pediatr (Rio J) 76:310–314

    Article  Google Scholar 

  11. Walder RY, Shalev H, Brennan TMH, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC (1997) Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet 6:1491–1497

    Article  PubMed  CAS  Google Scholar 

  12. Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM6 gene family. Nat Genet 31:166–170

    Article  PubMed  CAS  Google Scholar 

  13. Schmitz C, Dorovkov MV, Zhao X, Davenport BJ, Ryazanov AG, Perraud AL (2005) The channel kinases TRPM6 and TRPM7 are functionally nonredundant. J Biol Chem 280:37763–37771

    Article  PubMed  CAS  Google Scholar 

  14. Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T (2004) Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc Natl Acad Sci U S A 101:2894–2899

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  15. Ryazanov AG (2002) Elongation factor-2 kinase and its newly discovered relatives. FEBS Lett 514:26–29

    Article  PubMed  CAS  Google Scholar 

  16. Runnels LW, Yue L, Clapham DE (2001) TRP-PLIK, a bifunctional protein with kinase and ion channel activities. Science 291:1043–1047

    Article  PubMed  CAS  Google Scholar 

  17. Nadler MJ, Hermosura MC, Inabe K, Perraud AL, Zhu Q, Stokes AJ, Kurosaki T, Kinet JP, Penner R, Scharenberg AM, Fleig A (2001) LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability. Nature 411:590–595

    Article  PubMed  CAS  Google Scholar 

  18. Schmitz C, Perraud AL, Johnson CO, Inabe K, Smith MK, Penner R, Kurosaki T, Fleig A, Scharenberg AM (2003) Regulation of vertebrate cellular Mg(2+) homeostasis by TRPM7. Cell 114:191–200

    Article  PubMed  CAS  Google Scholar 

  19. Voets T, Nilius B, Hoefs S, van der Kemp AW, Droogmans G, Bindels RJ, Hoenderop JG (2004) TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem 279:19–25

    Article  PubMed  CAS  Google Scholar 

  20. Challa A, Papaefstathiou I, Lapatsanis D, Tsolas O (1995) Primary idiopathic hypomagnesemia in two female siblings. Acta Paediatr 84:1075–1078

    Article  PubMed  CAS  Google Scholar 

  21. Cole DE, Kooh SW, Vieth R (2000) Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion. Eur J Pediatr 159:38–43

    Article  PubMed  CAS  Google Scholar 

  22. Shu SG, Mak SC, Chen YC, Chi CS (1997) Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi 38:293–296

    PubMed  CAS  Google Scholar 

  23. Zhao Z, Pei Y, Huang X, Liu Y, Yang W, Sun J, Si N, Xing X, Li M, Wang O, Jiang Y, Zhang X, Xia W (2013) Novel TRPM6 Mutations in Familial Hypomagnesemia with Secondary Hypocalcemia. Am J Nephrol 37:541–548

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 13-1 Takaramachi, Kanazawa, 920-8641, Japan

    Masaki Shimizu, Shoichi Koizumi & Akihiro Yachie

  2. Divisions of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Uchinada, Japan

    Yo Niida

Authors
  1. Masaki Shimizu
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  2. Yo Niida
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  3. Shoichi Koizumi
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  4. Akihiro Yachie
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Corresponding author

Correspondence to Masaki Shimizu.

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This refers to the article that can be found at http://dx.doi.org/10.1007/s00467-013-2615-4.

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Shimizu, M., Niida, Y., Koizumi, S. et al. An infant with recurrent convulsive seizures of 3 weeks’ duration: Answers. Pediatr Nephrol 29, 1953–1955 (2014). https://doi.org/10.1007/s00467-013-2628-z

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  • DOI: https://doi.org/10.1007/s00467-013-2628-z

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