Mechanisms and Disorders of Magnesium Metabolism

Seldin and Geibisch's The Kidney

Volumn 2, Issue , 2013, Pages 2139-2165

  Schlingmann, Karl P ^a   Konrad, Martin ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84883977334     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-381462-3.00061-6     Document Type: Chapter

References (203)

1. Quamme G.A. Renal magnesium handling: new insights in understanding old problems. Kidney Int 1997, 52(5):1180-1195.
2. Quamme G.A. Laboratory evaluation of magnesium status. Renal function and free intracellular magnesium concentration. Clin Lab Med 1993, 13(1):209-223.
3. de Rouffignac C., Quamme G. Renal magnesium handling and its hormonal control. Physiol Rev 1994, 74(2):305-322.
4. Lelievre-Pegorier M., Merlet-Benichou C., Roinel N., de Rouffignac C. Developmental pattern of water and electrolyte transport in rat superficial nephrons. Am J Physiol 1983, 245(1):F15-F21.
5. De Rouffignac C. Multihormonal regulation of nephron epithelia: achieved through combinational mode?. Am J Physiol 1995, 269(4 Pt 2):R739-R748.
6. Quamme G.A. Control of magnesium transport in the thick ascending limb. Am J Physiol 1989, 256(2 Pt 2):F197-F210.
7. Elalouf J.M., Roinel N., de Rouffignac C. Effects of dDAVP on rat juxtamedullary nephrons: stimulation of medullary K recycling. Am J Physiol 1985, 249(2 Pt 2):F291-F298.
8. Mandon B., Siga E., Roinel N., de Rouffignac C. Ca2+, Mg2+ and K+ transport in the cortical and medullary thick ascending limb of the rat nephron: influence of transepithelial voltage. Pflugers Arch 1993, 424(5-6):558-560.
9. Shareghi G.R., Agus Z.S. Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit. J Clin Invest 1982, 69(4):759-769.
10. Estévez R., Boettger T., Stein V., et al. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 2001, 414(6863):558-561.
11. Embark H.M., Böhmer C., Palmada M., et al. Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. Kidney Int 2004, 66(5):1918-1925.
12. Waldegger S., Jeck N., Barth P., et al. Barttin increases surface expression and changes current properties of ClC-K channels. Pflugers Arch 2002, 444(3):411-418.
13. Simon D.B., Lu Y., Choate K.A., et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 1999, 285(5424):103-106.
14. Konrad M., Schaller A., Seelow D., et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 2006, 79(5):949-957.
15. Ikari A., Hirai N., Shiroma M., et al. Association of paracellin-1 with ZO-1 augments the reabsorption of divalent cations in renal epithelial cells. J Biol Chem 2004, 279(52):54826-54832.
16. Kiuchi-Saishin Y., Gotoh S., Furuse M., Takasuga A., Tano Y., Tsukita S. Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments. J Am Soc Nephrol 2002, 13(4):875-886.
17. Reyes J.L., Lamas M., Martin D., et al. The renal segmental distribution of claudins changes with development. Kidney Int 2002, 62(2):476-487.
18. Bruewer M., Hopkins A.M., Hobert M.E., Nusrat A., Madara J.L. RhoA, Rac1, and Cdc42 exert distinct effects on epithelial barrier via selective structural and biochemical modulation of junctional proteins and F-actin. Am J Physiol Cell Physiol 2004, 287(2):C327-C335.
19. Köhler K., Louvard D., Zahraoui A. Rab13 regulates PKA signaling during tight junction assembly. J Cell Biol 2004, 165(2):175-180.
20. Singh A.B., Harris R.C. Epidermal growth factor receptor activation differentially regulates claudin expression and enhances transepithelial resistance in Madin-Darby canine kidney cells. J Biol Chem 2004, 279(5):3543-3552.
21. Di Stefano A., Wittner M., Nitschke R., et al. Effects of parathyroid hormone and calcitonin on Na+, Cl-, K+, Mg2+ and Ca2+ transport in cortical and medullary thick ascending limbs of mouse kidney. Pflugers Arch 1990, 417(2):161-167.
22. Ba J., Friedman P.A. Calcium-sensing receptor regulation of renal mineral ion transport. Cell Calcium 2004, 35(3):229-237.
23. Hebert S.C., Brown E.M. The extracellular calcium receptor. Curr Opin Cell Biol 1995, 7(4):484-492.
24. Motoyama H.I., Friedman P.A. Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs. Am J Physiol Renal Physiol 2002, 283(3):F399-F406.
25. Desfleurs E., Wittner M., Pajaud S., Nitschke R., Rajerison R.M., Di Stefano A. The Ca2+-sensing receptor in the rabbit cortical thick ascending limb (CTAL) is functionally not coupled to phospholipase C. Pflugers Arch 1999, 437(5):716-723.
26. Desfleurs E., Wittner M., Simeone S., et al. Calcium-sensing receptor: regulation of electrolyte transport in the thick ascending limb of Henle's loop. Kidney Blood Press Res 1998, 21(6):401-412.
27. Di Stefano A., Desfleurs E., Simeone S., Nitschke R., Wittner M. Ca2+ and Mg2+ sensor in the thick ascending limb of the loop of Henle. Kidney Blood Press Res 1997, 20(3):190-193.
28. Frazão J.M., Martins P., Coburn J.W. The calcimimetic agents: perspectives for treatment. Kidney Int Suppl 2002, 80:149-154.
29. Riccardi D., Hall A.E., Chattopadhyay N., Xu J.Z., Brown E.M., Hebert S.C. Localization of the extracellular Ca2+/polyvalent cation-sensing protein in rat kidney. Am J Physiol 1998, 274(3 Pt 2):F611-F622.
30. Massry S.G., Coburn J.W. The hormonal and non-hormonal control of renal excretion of calcium and magnesium. Nephron 1973, 10(2):66-112.
31. Wong N.L., Dirks J.H., Quamme G.A. Tubular reabsorptive capacity for magnesium in the dog kidney. Am J Physiol 1983, 244(1):F78-F83.
32. Kelepouris E., Agus Z.S. Hypomagnesemia: renal magnesium handling. Semin Nephrol 1998, 18(1):58-73.
33. Ahmad A., Swaminathan R. Disorders of magnesium metabolism. The kidney: physiology and pathophysiology 2000, Raven Press, New York, p. 1732-48.
34. Wittner M., Jounier S., Deschênes G., de Rouffignac C., Di Stefano A. Cellular adaptation of the mouse cortical thick ascending limb of Henle's loop (CTAL) to dietary magnesium restriction: enhanced transepithelial Mg2+ and Ca2+ transport. Pflugers Arch 2000, 439(6):765-771.
35. Efrati E., Arsentiev-Rozenfeld J., Zelikovic I. The human paracellin-1 gene (hPCLN-1): renal epithelial cell-specific expression and regulation. Am J Physiol Renal Physiol 2005, 288(2):F272-F283.
36. Dai L.J., Ritchie G., Kerstan D., Kang H.S., Cole D.E., Quamme G.A. Magnesium transport in the renal distal convoluted tubule. Physiol Rev 2001, 81(1):51-84.
37. Schlingmann K.P., Weber S., Peters M., et al. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002, 31(2):166-170.
38. Walder R.Y., Landau D., Meyer P., et al. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 2002, 31(2):171-174.
39. Nadler M.J., Hermosura M.C., Inabe K., et al. LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability. Nature 2001, 411(6837):590-595.
40. Ryazanova L.V., Dorovkov M.V., Ansari A., Ryazanov A.G. Characterization of the protein kinase activity of TRPM7/ChaK1, a protein kinase fused to the transient receptor potential ion channel. J Biol Chem 2004, 279(5):3708-3716.
41. Schmitz C., Perraud A.L., Johnson C.O., et al. Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7. Cell 2003, 114(2):191-200.
42. Dorovkov M.V., Ryazanov A.G. Phosphorylation of annexin I by TRPM7 channel-kinase. J Biol Chem 2004, 279(49):50643-50646.
43. Takezawa R., Schmitz C., Demeuse P., Scharenberg A.M., Penner R., Fleig A. Receptor-mediated regulation of the TRPM7 channel through its endogenous protein kinase domain. Proc Natl Acad Sci U S A 2004, 101(16):6009-6014.
44. Runnels L.W., Yue L., Clapham D.E. The TRPM7 channel is inactivated by PIP(2) hydrolysis. Nat Cell Biol 2002, 4(5):329-336.
45. Chubanov V., Waldegger S., Mederos Y., Schnitzler M., et al. Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc Natl Acad Sci USA 2004, 101(9):2894-2899.
46. Voets T., Nilius B., Hoefs S., et al. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem 2004, 279(1):19-25.
47. Gwanyanya A., Amuzescu B., Zakharov S.I., et al. Magnesium-inhibited, TRPM6/7-like channel in cardiac myocytes: permeation of divalent cations and pH-mediated regulation. J Physiol 2004, 559(Pt 3):761-776.
48. Ritchie G., Kerstan D., Dai L.J., et al. 1,25(OH)(2)D(3) stimulates Mg2+ uptake into MDCT cells: modulation by extracellular Ca2+ and Mg2+. Am J Physiol Renal Physiol 2001, 280(5):F868-F878.
49. Dai L.J., Bapty B., Ritchie G., Quamme G.A. PGE2 stimulates Mg2+ uptake in mouse distal convoluted tubule cells. Am J Physiol 1998, 275(5 Pt 2):F833-F839.
50. Groenestege W.M., Thébault S., van der Wijst J., et al. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 2007, 117(8):2260-2267.
51. Thebault S., Alexander R.T., Tiel Groenestege W.M., Hoenderop J.G., Bindels R.J. EGF increases TRPM6 activity and surface expression. J Am Soc Nephrol 2009, 20(1):78-85.
52. Falin R., Veizis I.E., Cotton C.U. A role for ERK1/2 in EGF- and ATP-dependent regulation of amiloride-sensitive sodium absorption. Am J Physiol Cell Physiol 2005, 288(5):C1003-C1011.
53. Bapty B.W., Dai L.J., Ritchie G., et al. Extracellular Mg2(+)- and Ca2(+)-sensing in mouse distal convoluted tubule cells. Kidney Int 1998, 53(3):583-592.
54. Nijenhuis T., Vallon V., van der Kemp A.W., Loffing J., Hoenderop J.G., Bindels R.J. Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest 2005, 115(6):1651-1658.
55. Shafik I.M., Quamme G.A. Early adaptation of renal magnesium reabsorption in response to magnesium restriction. Am J Physiol 1989, 257(6 Pt 2):F974-F977.
56. Dai L.J., Raymond L., Friedman P.A., Quamme G.A. Mechanisms of amiloride stimulation of Mg2+ uptake in immortalized mouse distal convoluted tubule cells. Am J Physiol 1997, 272(2 Pt 2):F249-F256.
57. Efrati E., Hirsch A., Kladnitsky O., et al. Transcriptional regulation of the claudin-16 gene by Mg2+ availability. Cell Physiol Biochem 2010, 25(6):705-714.
58. Groenestege W.M., Hoenderop J.G., van den Heuvel L., Knoers N., Bindels R.J. The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens. J Am Soc Nephrol 2006, 17(4):1035-1043.
59. Rondón L.J., Groenestege W.M., Rayssiguier Y., Mazur A. Relationship between low magnesium status and TRPM6 expression in the kidney and large intestine. Am J Physiol Regul Integr Comp Physiol 2008, 294(6):R2001-R2007.
60. Bartter F.C., Pronove P., Gill J.R., Maccardle R.C. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962, 33:811-828.
61. Konrad M., Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003, 14(1):249-260.
62. Schlingmann K.P., Konrad M., Seyberth H.W. Genetics of hereditary disorders of magnesium homeostasis. Pediatr Nephrol 2004, 19(1):13-25.
63. Jeck N., Derst C., Wischmeyer E., et al. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int 2001, 59(5):1803-1811.
64. Simon D.B., Karet F.E., Hamdan J.M., DiPietro A., Sanjad S.A., Lifton R.P. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996, 13(2):183-188.
65. Simon D.B., Nelson-Williams C., Bia M.J., et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996, 12(1):24-30.
66. Vargas-Poussou R., Feldmann D., Vollmer M., et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 1998, 62(6):1332-1340.
67. Peters M., Ermert S., Jeck N., et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 2003, 64(3):923-932.
68. Birkenhäger R., Otto E., Schürmann M.J., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001, 29(3):310-314.
69. Schlingmann K.P., Konrad M., Jeck N., et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 2004, 350(13):1314-1319.
70. Matsumura Y., Uchida S., Kondo Y., et al. Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 1999, 21(1):95-98.
71. Jeck N., Reinalter S.C., Henne T., et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001, 108(1):E5.
72. Jeck N., Schlingmann K.P., Reinalter S.C., et al. Salt handling in the distal nephron: lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 2005, 288(4):R782-R795.
73. Konrad M., Vollmer M., Lemmink H.H., et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000, 11(8):1449-1459.
74. Simon D.B., Bindra R.S., Mansfield T.A., et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997, 17(2):171-178.
75. Jeck N., Konrad M., Peters M., Weber S., Bonzel K.E., Seyberth H.W. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000, 48(6):754-758.
76. Peters M., Jeck N., Reinalter S., et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002, 112(3):183-190.
77. Sabath E., Meade P., Berkman J., et al. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol 2004, 287(2):F195-F203.
78. Bettinelli A., Rusconi R., Ciarmatori S., et al. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?. Pediatr Res 1999, 46(2):232-238.
79. Károlyi L., Ziegler A., Pollak M., et al. Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. Pediatr Nephrol 1996, 10(5):551-554.
80. Gitelman H.J., Graham J.B., Welt L.G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966, 79:221-235.
81. Peters N., Bettinelli A., Spicher I., Basilico E., Metta M.G., Bianchetti M.G. Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrol Dial Transplant 1995, 10(8):1313-1319.
82. Cruz D.N., Shaer A.J., Bia M.J., Lifton R.P., Simon D.B., Group YGsaBsSCS Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001, 59(2):710-717.
83. Reilly R.F., Ellison D.H. Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol Rev 2000, 80(1):277-313.
84. Loffing J., Vallon V., Loffing-Cueni D., et al. Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome. J Am Soc Nephrol 2004, 15(9):2276-2288.
85. Schultheis P.J., Lorenz J.N., Meneton P., et al. Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule. J Biol Chem 1998, 273(44):29150-29155.
86. Bockenhauer D., Feather S., Stanescu H.C., et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 2009, 360(19):1960-1970.
87. Scholl U.I., Choi M., Liu T., et al. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 2009, 106(14):5842-5847.
88. Ito M., Inanobe A., Horio Y., et al. Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia. FEBS Lett 1996, 388(1):11-15.
89. Tanemoto M., Abe T., Onogawa T., Ito S. PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules. Am J Physiol Renal Physiol 2004, 287(6):F1148-F1153.
90. Bandulik S., Schmidt K., Bockenhauer D., et al. The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Arch 2011, 461(4):423-435.
91. Pollak M.R., Brown E.M., Estep H.L., et al. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994, 8(3):303-307.
92. Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996, 335(15):1115-1122.
93. Vargas-Poussou R., Huang C., Hulin P., et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002, 13(9):2259-2266.
94. Watanabe S., Fukumoto S., Chang H., et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002, 360(9334):692-694.
95. Sanda S., Schlingmann K.P., Newfield R.S. Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion. J Pediatr Endocrinol Metab 2008, 21(4):385-391.
96. Pollak M.R., Brown E.M., Chou Y.H., et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993, 75(7):1297-1303.
97. Marx S.J., Attie M.F., Levine M.A., Spiegel A.M., Downs R.W., Lasker R.D. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 1981, 60(6):397-412.
98. Cole D.E., Quamme G.A. Inherited disorders of renal magnesium handling. J Am Soc Nephrol 2000, 11(10):1937-1947.
99. Hunter D., De Lange M., Snieder H., et al. Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation. J Bone Miner Res 2001, 16(2):371-378.
100. Benigno V., Canonica C.S., Bettinelli A., von Vigier R.O., Truttmann A.C., Bianchetti M.G. Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review. Nephrol Dial Transplant 2000, 15(5):605-610.
101. Praga M., Vara J., González-Parra E., et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 1995, 47(5):1419-1425.
102. Weber S., Schneider L., Peters M., et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001, 12(9):1872-1881.
103. Wolf M.T., Dötsch J., Konrad M., Böswald M., Rascher W. Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. Pediatr Nephrol 2002, 17(8):602-608.
104. Weber S., Hoffmann K., Jeck N., et al. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet 2000, 8(6):414-422.
105. Nicholson J.C., Jones C.L., Powell H.R., Walker R.G., McCredie D.A. Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure. Pediatr Nephrol 1995, 9(1):74-76.
106. Haisch L., Almeida J.R., Abreu da Silva P.R., Schlingmann K.P., Konrad M. The role of tight junctions in paracellular ion transport in the renal tubule: lessons learned from a rare inherited tubular disorder. Am J Kidney Dis 2011, 57(2):320-330.
107. Colegio O.R., Van Itallie C., Rahner C., Anderson J.M. Claudin extracellular domains determine paracellular charge selectivity and resistance but not tight junction fibril architecture. Am J Physiol Cell Physiol 2003, 284(6):C1346-C1354.
108. Weber S., Schlingmann K.P., Peters M., et al. Primary gene structure and expression studies of rodent paracellin-1. J Am Soc Nephrol 2001, 12(12):2664-2672.
109. Ohba Y., Kitagawa H., Kitoh K., et al. A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle. Genomics 2000, 68(3):229-236.
110. Will C., Breiderhoff T., Thumfart J., et al. Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting. Am J Physiol Renal Physiol 2010.
111. Konrad M., Hou J., Weber S., et al. CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2008, 19(1):171-181.
112. Blanchard A., Jeunemaitre X., Coudol P., et al. Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 2001, 59(6):2206-2215.
113. Müller D., Kausalya P.J., Claverie-Martin F., et al. A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 2003, 73(6):1293-1301.
114. Hou J., Renigunta A., Gomes A.S., et al. Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. Proc Natl Acad Sci U S A 2009, 106(36):15350-15355.
115. Hou J., Goodenough D.A. Claudin-16 and claudin-19 function in the thick ascending limb. Curr Opin Nephrol Hypertens 2010, 19(5):483-488.
116. Paunier L., Radde I.C., Kooh S.W., Conen P.E., Fraser D. Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 1968, 41(2):385-402.
117. Jalkanen R., Pronicka E., Tyynismaa H., Hanauer A., Walder R., Alitalo T. Genetic background of HSH in three Polish families and a patient with an X;9 translocation. Eur J Hum Genet 2006, 14(1):55-62.
118. Walder R.Y., Shalev H., Brennan T.M., et al. Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet 1997, 6(9):1491-1497.
119. Schlingmann K.P., Sassen M.C., Weber S., et al. Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005, 16(10):3061-3069.
120. Anast C.S., Mohs J.M., Kaplan S.L., Burns T.W. Evidence for parathyroid failure in magnesium deficiency. Science 1972, 177(4049):606-608.
121. Vetter T., Lohse M.J. Magnesium and the parathyroid. Curr Opin Nephrol Hypertens 2002, 11(4):403-410.
122. Shalev H., Phillip M., Galil A., Carmi R., Landau D. Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 1998, 78(2):127-130.
123. Cole D.E., Kooh S.W., Vieth R. Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion. Eur J Pediatr 2000, 159(1-2):38-43.
124. Aries P.M., Schubert M., Müller-Wieland D., Krone W. Subcutaneous magnesium pump in a patient with combined magnesium transport defect. Dtsch Med Wochenschr 2000, 125(33):970-972.
125. Lombeck I., Ritzl F., Schnippering H.G., et al. Primary hypomagnesemia. I. Absorption Studies. Z Kinderheilkd 1975, 118(4):249-258.
126. Matzkin H., Lotan D., Boichis H. Primary hypomagnesemia with a probable double magnesium transport defect. Nephron 1989, 52(1):83-86.
127. Montell C. Mg2+ homeostasis: the Mg2+nificent TRPM chanzymes. Curr Biol 2003, 13(20):R799-R801.
128. Monteilh-Zoller M.K., Hermosura M.C., Nadler M.J., Scharenberg A.M., Penner R., Fleig A. TRPM7 provides an ion channel mechanism for cellular entry of trace metal ions. J Gen Physiol 2003, 121(1):49-60.
129. Hofmann T., Schaefer M., Schultz G., Gudermann T. Subunit composition of mammalian transient receptor potential channels in living cells. Proc Natl Acad Sci U S A 2002, 99(11):7461-7466.
130. Chubanov V., Schlingmann K.P., Wäring J., et al. Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6. J Biol Chem 2007, 282(10):7656-7667.
131. Schweigel M., Martens H. Magnesium transport in the gastrointestinal tract. Front Biosci 2000, 5:D666-D677.
132. Kerstan D., Quamme G.A. Physiology and pathophysiology of intestinal absorption of magnesium. Calcium in Internal Medicine 2002, 171-183. Springer-Verlag, Surry, UK. S.G. Massry, H. Morii, Y. Nishizawa (Eds.).
133. Meij I.C., Koenderink J.B., van Bokhoven H., et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet 2000, 26(3):265-266.
134. Geven W.B., Monnens L.A., Willems H.L., Buijs W.C., ter Haar B.G. Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int 1987, 31(5):1140-1144.
135. Meij I.C., Saar K., van den Heuvel L.P., et al. Hereditary isolated renal magnesium loss maps to chromosome 11q23. Am J Hum Genet 1999, 64(1):180-188.
136. Sweadner K.J., Arystarkhova E., Donnet C., Wetzel R.K. FXYD proteins as regulators of the Na,K-ATPase in the kidney. Ann N Y Acad Sci 2003, 986:382-387.
137. Arystarkhova E., Wetzel R.K., Sweadner K.J. Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney. Am J Physiol Renal Physiol 2002, 282(3):F393-F407.
138. Arystarkhova E., Donnet C., Asinovski N.K., Sweadner K.J. Differential regulation of renal Na,K-ATPase by splice variants of the gamma subunit. J Biol Chem 2002, 277(12):10162-10172.
139. Blostein R., Pu H.X., Scanzano R., Zouzoulas A. Structure/function studies of the gamma subunit of the Na,K-ATPase. Ann N Y Acad Sci 2003, 986:420-427.
140. Meij I.C., Koenderink J.B., De Jong J.C., et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. Ann N Y Acad Sci 2003, 986:437-443.
141. Cairo E.R., Friedrich T., Swarts H.G., et al. Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia. Biochim Biophys Acta 2008, 1778(2):398-404.
142. Jones D.H., Li T.Y., Arystarkhova E., et al. Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability. J Biol Chem 2005, 280(19):19003-19011.
143. Glaudemans B., van der Wijst J., Scola R.H., et al. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 2009, 119(4):936-942.
144. Browne D.L., Gancher S.T., Nutt J.G., et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994, 8(2):136-140.
145. van der Wijst J., Glaudemans B., Venselaar H., et al. Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia. J Biol Chem 2010, 285(1):171-178.
146. Stuiver M., Lainez S., Will C., et al. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet 2011, 88(3):333-343.
147. Goytain A., Quamme G.A. Functional characterization of ACDP2 (ancient conserved domain protein), a divalent metal transporter. Physiol Genomics 2005, 22(3):382-389.
148. Meyer T.E., Verwoert G.C., Hwang S.J., et al. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet 2010, 6:8.
149. Gibson M.M., Bagga D.A., Miller C.G., Maguire M.E. Magnesium transport in Salmonella typhimurium: the influence of new mutations conferring Co2+ resistance on the CorA Mg2+ transport system. Mol Microbiol 1991, 5(11):2753-2762.
150. Heidet L., Decramer S., Pawtowski A., et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010, 5(6):1079-1090.
151. Adalat S., Woolf A.S., Johnstone K.A., et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2009, 20(5):1123-1131.
152. Geven W.B., Monnens L.A., Willems J.L., Buijs W., Hamel C.J. Isolated autosomal recessive renal magnesium loss in two sisters. Clin Genet 1987, 32(6):398-402.
153. Wilson F.H., Hariri A., Farhi A., et al. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 2004, 306(5699):1190-1194.
154. Lajer H., Daugaard G. Cisplatin and hypomagnesemia. Cancer Treat Rev 1999, 25(1):47-58.
155. Yao X., Panichpisal K., Kurtzman N., Nugent K. Cisplatin nephrotoxicity: a review. Am J Med Sci 2007, 334(2):115-124.
156. Boulikas T., Vougiouka M. Recent clinical trials using cisplatin, carboplatin and their combination chemotherapy drugs (review). Oncol Rep 2004, 11(3):559-595.
157. Carrick S., Ghersi D., Wilcken N., Simes J. Platinum containing regimens for metastatic breast cancer. Cochrane Database Syst Rev 2004, (2):CD003374.
158. English M.W., Skinner R., Pearson A.D., Price L., Wyllie R., Craft A.W. Dose-related nephrotoxicity of carboplatin in children. Br J Cancer 1999, 81(2):336-341.
159. Goren M.P. Cisplatin nephrotoxicity affects magnesium and calcium metabolism. Med Pediatr Oncol 2003, 41(3):186-189.
160. Hodgkinson E., Neville-Webbe H.L., Coleman R.E. Magnesium depletion in patients receiving cisplatin-based chemotherapy. Clin Oncol (R Coll Radiol) 2006, 18(9):710-718.
161. Magil A.B., Mavichak V., Wong N.L., Quamme G.A., Dirks J.H., Sutton R.A. Long-term morphological and biochemical observations in cisplatin-induced hypomagnesemia in rats. Nephron 1986, 43(3):223-230.
162. Mavichak V., Wong N.L., Quamme G.A., Magil A.B., Sutton R.A., Dirks J.H. Studies on the pathogenesis of cisplatin-induced hypomagnesemia in rats. Kidney Int 1985, 28(6):914-921.
163. Swainson C.P., Colls B.M., Fitzharris B.M. Cis-platinum and distal renal tubule toxicity. N Z Med J 1985, 98(779):375-378.
164. Bianchetti M.G., Kanaka C., Ridolfi-Lüthy A., Hirt A., Wagner H.P., Oetliker O.H. Persisting renotubular sequelae after cisplatin in children and adolescents. Am J Nephrol 1991, 11(2):127-130.
165. Markmann M., Rothman R., Reichman B., et al. Persistent hypomagnesemia following cisplatin chemotherapy in patients with ovarian cancer. J Cancer Res Clin Oncol 1991, 117(2):89-90.
166. Panichpisal K., Angulo-Pernett F., Selhi S., Nugent K.M. Gitelman-like syndrome after cisplatin therapy: a case report and literature review. BMC Nephrol 2006, 7:10.
167. Arany I., Safirstein R.L. Cisplatin nephrotoxicity. Semin Nephrol 2003, 23(5):460-464.
168. Shah G.M., Kirschenbaum M.A. Renal magnesium wasting associated with therapeutic agents. Miner Electrolyte Metab 1991, 17(1):58-64.
169. Elliott C., Newman N., Madan A. Gentamicin effects on urinary electrolyte excretion in healthy subjects. Clin Pharmacol Ther 2000, 67(1):16-21.
170. Giapros V.I., Cholevas V.I., Andronikou S.K. Acute effects of gentamicin on urinary electrolyte excretion in neonates. Pediatr Nephrol 2004, 19(3):322-325.
171. Keating M.J., Sethi M.R., Bodey G.P., Samaan N.A. Hypocalcemia with hypoparathyroidism and renal tubular dysfunction associated with aminoglycoside therapy. Cancer 1977, 39(4):1410-1414.
172. Garland H.O., Birdsey T.J., Davidge C.G., et al. Effects of gentamicin, neomycin and tobramycin on renal calcium and magnesium handling in two rat strains. Clin Exp Pharmacol Physiol 1994, 21(2):109-115.
173. Weinberg J.M., Harding P.G., Humes H.D. Alterations in renal cortex cation homeostasis during mercuric chloride and gentamicin nephrotoxicity. Exp Mol Pathol 1983, 39(1):43-60.
174. Kang H.S., Kerstan D., Dai L., Ritchie G., Quamme G.A. Aminoglycosides inhibit hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells. Can J Physiol Pharmacol 2000, 78(8):595-602.
175. McLarnon S., Holden D., Ward D., Jones M., Elliott A., Riccardi D. Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor. Biochem Biophys Res Commun 2002, 297(1):71-77.
176. Ward D.T., McLarnon S.J., Riccardi D. Aminoglycosides increase intracellular calcium levels and ERK activity in proximal tubular OK cells expressing the extracellular calcium-sensing receptor. J Am Soc Nephrol 2002, 13(6):1481-1489.
177. Rob P.M., Lebeau A., Nobiling R., et al. Magnesium metabolism: basic aspects and implications of ciclosporine toxicity in rats. Nephron 1996, 72(1):59-66.
178. Wong N.L., Dirks J.H. Cyclosporin-induced hypomagnesaemia and renal magnesium wasting in rats. Clin Sci (Lond) 1988, 75(5):509-514.
179. Lote C.J., Thewles A., Wood J.A., Zafar T. The hypomagnesaemic action of FK506: urinary excretion of magnesium and calcium and the role of parathyroid hormone. Clin Sci (Lond) 2000, 99(4):285-292.
180. Chang C.T., Hung C.C., Tian Y.C., Yang C.W., Wu M.S. Ciclosporin reduces paracellin-1 expression and magnesium transport in thick ascending limb cells. Nephrol Dial Transplant 2007, 22(4):1033-1040.
181. Kim S.J., Kang H.S., Jeong C.W., et al. Immunosuppressants inhibit hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells. Biochem Biophys Res Commun 2006, 341(3):742-748.
182. Ledeganck K.J., Boulet G.A., Horvath C.A., et al. Expression of renal distal tubule transporters TRPM6 and NCC in a rat model of cyclosporine nephrotoxicity and effect of EGF treatment. Am J Physiol Renal Physiol 2011, 301(3):F486-F493.
183. Nijenhuis T., Hoenderop J.G., Bindels R.J. Downregulation of Ca(2+) and Mg(2+) transport proteins in the kidney explains tacrolimus (FK506)-induced hypercalciuria and hypomagnesemia. J Am Soc Nephrol 2004, 15(3):549-557.
184. Mervaala E.M., Müller D.N., Park J.K., et al. Monocyte infiltration and adhesion molecules in a rat model of high human renin hypertension. Hypertension 1999, 33(1 Pt 2):389-395.
185. Miura K., Nakatani T., Asai T., et al. Role of hypomagnesemia in chronic cyclosporine nephropathy. Transplantation 2002, 73(3):340-347.
186. Tejpar S., Piessevaux H., Claes K., et al. Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective study. Lancet Oncol 2007, 8(5):387-394.
187. Cao Y., Liao C., Tan A., Liu L., Gao F. Meta-analysis of incidence and risk of hypomagnesemia with cetuximab for advanced cancer. Chemotherapy 2010, 56(6):459-465.
188. Vincenzi B., Santini D., Galluzzo S., et al. Early magnesium reduction in advanced colorectal cancer patients treated with cetuximab plus irinotecan as predictive factor of efficacy and outcome. Clin Cancer Res 2008, 14(13):4219-4224.
189. Vincenzi B., Galluzzo S., Santini D., et al. Early magnesium modifications as a surrogate marker of efficacy of cetuximab-based anticancer treatment in KRAS wild-type advanced colorectal cancer patients. Ann Oncol 2011, 22(5):1141-1146.
190. Cundy T., Mackay J. Proton pump inhibitors and severe hypomagnesaemia. Curr Opin Gastroenterol 2011, 27(2):180-185.
191. Epstein M., McGrath S., Law F. Proton-pump inhibitors and hypomagnesemic hypoparathyroidism. N Engl J Med 2006, 355(17):1834-1836.
192. Elisaf M., Kalaitzidis R., Siamopoulos K.C. Multiple electrolyte abnormalities after pamidronate administration. Nephron 1998, 79(3):337-339.
193. Di Stefano ADE, Moine G. Regulation of Ca2+ and Mg2+ reabsorption in the mouse cortical thick ascending limb of Henles loop (cTAL) by low magnesium diet and metabolic alkalosis 1995; [p abstract P 015].
194. Husmann M.J., Fuchs P., Truttmann A.C., et al. Extracellular magnesium depletion in pediatric patients with insulin-dependent diabetes mellitus. Miner Electrolyte Metab 1997, 23(2):121-124.
195. Khan L.A., Alam A.M., Ali L., et al. Serum and urinary magnesium in young diabetic subjects in Bangladesh. Am J Clin Nutr 1999, 69(1):70-73.
196. Takaya J., Higashino H., Kotera F., Kobayashi Y. Intracellular magnesium of platelets in children with diabetes and obesity. Metabolism 2003, 52(4):468-471.
197. Tosiello L. Hypomagnesemia and diabetes mellitus. A review of clinical implications. Arch Intern Med 1996, 156(11):1143-1148.
198. Barbagallo M., Dominguez L.J., Galioto A., et al. Role of magnesium in insulin action, diabetes and cardio-metabolic syndrome X. Mol Aspects Med 2003, 24(1-3):39-52.
199. Guerrero-Romero F., Rodríguez-Morán M. Low serum magnesium levels and metabolic syndrome. Acta Diabetol 2002, 39(4):209-213.
200. Coburn J.W., Massry S.G. Changes in serum and urinary calcium during phosphate depletion: studies on mechanisms. J Clin Invest 1970, 49(6):1073-1087.
201. Dai L.J., Friedman P.A., Quamme G.A. Phosphate depletion diminishes Mg2+ uptake in mouse distal convoluted tubule cells. Kidney Int 1997, 51(6):1710-1718.
202. Dai L.J., Friedman P.A., Quamme G.A. Cellular mechanisms of chlorothiazide and cellular potassium depletion on Mg2+ uptake in mouse distal convoluted tubule cells. Kidney Int 1997, 51(4):1008-1017.
203. Crook M.A. Hypophosphataemia and hypokalaemia in patients with hypomagnesaemia. Br J Biomed Sci 1994, 51(1):24-27.