Abstract
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20th day of life. The physical examination of the case was normal. In laboratory results, Ca+2 level was 5,7 mg/dl, Mg+2: 0,4 mg/dl (1,3–2,1), PTH: 28,4 pg/ml (12–92), and P-: 4,5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
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References
Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L et al. Novel TRPM6 mutations in 21 Families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005; 16: 3061–3069.
Carrazza FR, Souza MS, Romaldini C, Feferbaun R, Diniz EA. Magnesium metabolism in chronic primary hypomagnesemia. J Pediatr (Rio J) 2000; 76: 310–314.
Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14: 249–260.
Voets T, Nilius B, Hoefs S, van der Kemp AW, Droogmans G, Bindels RJ et al. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem 2004; 279: 19–25.
Konrad M, Schlingmann KP, Gudermann T. Insights into the molecular nature of magnesium homeostasis. Am J Physiol Renal Physiol 2004; 286: 599–605.
Schlingmann KP, Konrad M, Seyberth HW. Genetics of hereditary disorders of magnesium homeostasis. Pediatr Nephrol 2004;19:13–25.
Montaigne D, Perimenis P, Douillard C, Wemeau JL, Vantyghem MC. Congenital hypomagnesemia. Presse Med 2004; 33: 1341–1348.
Voets T, Nilius B, Hoefs S, Van der Kemp AW, Droogmans G, Bindels RJ, et al. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem 2004; 279: 19–25.
Greenbaum LA. Pathophysiology of body fluids and fluid therapy. In Behrman RE, Kliegman RM, Jenson HB, eds. Textbook of Pediatrics. Philadelphia, WB Saunders, 2004; 191–252.
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Apa, H., Kayserili, E., Agin, H. et al. A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation. Indian J Pediatr 75, 632–634 (2008). https://doi.org/10.1007/s12098-008-0121-7
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DOI: https://doi.org/10.1007/s12098-008-0121-7