Congenital hypomagnesemia;Les hypomagnésémies congénitales

Presse Medicale

Volumn 33, Issue 19 I, 2004, Pages 1341-1348

  Montaigne, David ^a   Perimenis, Pierrette ^a   Douillard, Claire ^a   Wemeau, Jean Louis ^a   Vantyghem, Marie Christine ^a,b  

^a Centre Hospitalo Universitaire   (France)

^b Centre Hospitalier et Universitaire   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CATION TRANSPORT; GENOTYPE PHENOTYPE CORRELATION; GITELMAN SYNDROME; HENLE LOOP; HUMAN; HYPERCALCIURIA; HYPOCALCEMIA; HYPOMAGNESEMIA; INTESTINE ABSORPTION; KIDNEY CALCIFICATION; KIDNEY DISTAL TUBULE; MOLECULAR GENETICS; PHENOTYPE; REVIEW;

EID: 9144249607     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0755-4982(04)98921-x     Document Type: Review

References (41)

1. Anast CS, Mohs JM, Kaplan SL, Burns TW. Evidence for parathyroid failure in magnesium deficiency. Science 1972; 177: 606-8.
2. Ducreux M, Condamine C, Messing B. Magnésium et réanimation. Réan Urg 1992; 1: 271-83.
3. Brannan PG, Vergne-Marini P, Pak CY, Hull AR, Fordtran JS. Magnesium absorption in the human small intestine. Results in normal subjects, patients with chronic renal disease, and patients with absorptive hypercalciuria. J Clin Invest 1976; 57: 1412-18.
4. Fine KD, Santa Ana CA, Porter JL, Fordtran JS. Intestinal absorption of magnesium from food and supplements. J Clin Invest 1991; 88: 396-402.
5. Schlingmann KP, Weber S, Peters M et al. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nature Genet 2002; 31: 166-70.
6. Walder RY, Landau D, Meyer P. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nature Genet 2002; 31: 171-4.
7. Lelievre-Pegorier M, Merlet-Benichou C, Roinel N, de Rouffignac C. Developmental pattern of water and electrolyte transport in rat superficial nephron. Am J Physiol 1983; 245: 15-21.
8. Simon DB, Lu Y, Choate K A et al. Paracellin-1, a renal tight junction protein required for paracellular Mg (2+) resorption. Science 1999; 285: 103-6.
9. Satoh J, Romero MF. Mg2+ transport in the kidney. Biometals 2002; 15: 285-95.
10. Scheinman SJ, Guay-Woodford LM et al. Genetic disorders of renal electrolyte transport. N Engl J Med 1999; 340: 1177-87.
11. Bapty BW, Dai LJ, Ritchie G, Canaff L, Hendy GN, Quamme GA. Mg2+/Ca2+ sensing inhibits hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells. Am J Physiol 1998; 275: F353-F360.
12. Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D. Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 1968; 41: 385-402.
13. Salet J, Polonovski C, De Gouyon F, Pean G, Melekian B, Fournet JP. Tétanie hypocalcémique récidivante par hypomagné sémie congénitale: une maladie métabolique nouvelle. Arch Franc Pediat 1966; 23: 749-68.
14. Pronicka E, Gruszczynska B. Familial hypomagnesemia with secondary hypocalcemia-autosomal or X-linked inheritance? J Inherit Metab Dis 1991; 14: 397-9.
15. 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: 414-22.
16. Manz F, Scharer K, Janka P, Lombeck J. Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Europ J Pediat 1978; 128: 67-79.
17. Ulmann A, Hadj S, Lacour B, Bourdeau A, Bader C. Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: effect of oral phosphorus and magnesium supplements. Nephron 1985; 40: 83-7.
18. Praga M, Vara J, Gonzalez-Parra E et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 1995; 47: 1419-25.
19. Bartter FC, Pronove P, Gill JR, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 1962; 33: 811-28.
20. Vantyghem MC, Douillard C, Binaut R, Provot F. Bartter's syndromes. Ann Endocrinol (Paris) 1999; 60: 465-72.
21. Deschenes G, Burguet A, Guyot C et al. Forme anténatale de syndrome de Bartter. Ann Pediat 1993; 40: 95-101.
22. Konrad M, Leonhardt A, Hensen P, Seyberth HW, Kockerling A. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. Pediatrics 1999; 103: 678-83.
23. Landau D, Shalev H, Ohaly M, Carmi R. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995; 59: 454-9.
24. Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet 1996; 13: 183-8.
25. Simon DB, Karet FE, Rodriguez-Soriano J et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genet 1996; 14: 152-6.
26. Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genet 1997; 17: 171-8.
27. Brennan TMH, Landau D, Shalev H et al. Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 1998; 62: 355-61.
28. Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nature Genet 2001; 29: 310-14.
29. Pollak MR, Brown EM, Estep HL et al. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994; 8: 303-7.
30. Pearce SH, 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: 1115-22.
31. Okazaki R, Chikatsu N, Nakatsu M et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 1999; 84: 363-6.
32. Vargas-Poussou R, Huang C, Hulin P. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter like syndrome. J Am Soc Nepnrol 2002; 13: 2259-66.
33. Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002; 360: 692-4.
34. Geven WB, Monnens U, Willems HL, Buijs WC, Ter Haar BG. Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int 1987; 31: 1140-4.
35. Meij IC, Koenderink JB, van Bokhoven H et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K(+)-ATPase gamma-subunit. Nature Genet 2000; 26: 265-6.
36. Meij IC, Saar K, van den Heuvel LP et al. Hereditary isolated renal magnesium loss maps to chromosome 11q23. Am J Hum Genet 1999; 64: 180-8.
37. Kantorovich V, Adams JS, Gaines JE et al. Genetic heterogeneity in familial renal magnesium wasting. J Clin Endocr Metab 2002; 87: 612-17.
38. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 1966; 79: 221-35.
39. Hisakawa N, Yasuoka N, Itoh H et al. A case of Gitelman's syndrome with chondrocalcinosis. Endocr J 1998; 45: 261-7.
40. Simon DB, Nelson-Williams C, Bia MJ et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet 1996; 12: 24-30.
41. Geven WB, Monnens LAH, Willems JL, Buijs W, Hamel CJ. Isolated autosomal recessive renal magnesium loss in two sisters. Clin Genet 1987; 32: 398-402.