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Hypomagnesaemia of hereditary renal origin

  • International Symposium on Hereditary Nephropathies Heidelberg, 6–8 October, 1986
  • Published:
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Abstract

Cases of hypomagnesaemia of hereditary renal origin represent at least three different congenital disorders of tubular reabsorption of magnesium (Mg).Isolated familial hypomagnesaemia has been reported in a heterogeneous group of patients and an autosomal dominant pattern of inheritance has often been found to be present.Familial hypokalaemia-hypomagnesaemia, inherited as an autosomal recessive trait, has been reported in 17 patients and we now describe 3 additional cases. Hypomagnesaemia is accompanied by hypokalaemia, metabolic alkalosis, hypocalciuria and moderate sodium chloride wasting. Titration of renal Mg reabsorption indicates the presence of a low threshold but a normal Tm. The inherited defect is probably situated at the level of the distal convoluted tubule and mimics the therapeutic effect of thiazides. This condition is frequently confused with Bartter's syndrome.Familial hypomagnesaemia-hypercalciuria, also inherited as an autosomal resessive trait, has been reported in at least 15 patients and we now add 3 new cases. Hypomagnesaemia is always accompanied by hypercalciuria and nephrocalcinosis. Ocular abnormalities such as myopia and horizontal nystagmus are often present. Hypermagnesiuria is of a greater degree than that observed in the previous entity and reflects a low Tm of Mg reabsorption. The defect must be situated at the level of the ascending limb of the loop of Henle and affects the transport of both calcium and Mg but not of sodium and chloride. This condition has not been clearly separated from hereditary distal renal tubular acidosis in the literature.

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References

  1. Quamme GA, Dirks JH (1980) Magnesium transport in the nephron. Am J Physiol 239:F397-F401

    Google Scholar 

  2. Agus ZS, Wasserstein A, Goldfarb S (1982) Disorders of calcium and magnesium homeostasis. Am J Med 72: 473–488

    PubMed  Google Scholar 

  3. Lim P, Chin B, Doug S, Khoo T (1969) Intracellular magnesium depletion in chronic renal failure. N Engl J Med 280:981–984

    PubMed  Google Scholar 

  4. Rude FK, Adams JS, Ryzen E, Endres DB, Niimi I, Horst RL, Haddad JG Jr, Singer FR (1985) Low serum concentration of 1,25-dihydroxyvitamin D in human magnesium deficiency. J Clin Endocrinol Metab 61:933–940

    PubMed  Google Scholar 

  5. Rude RK, Oldham SB, Sharp CF, Singer FR (1978) Parathyroid hormone secretion in magnesium deficiency. J Clin Endocrinol Metab 47:800–806

    PubMed  Google Scholar 

  6. Anast CS, Winnacker JL, Forte LR, Burns TW (1976) Impaired release of parathyroid hormone in magnesium deficiency. J Clin Endocrinol Metab 42:707–717

    PubMed  Google Scholar 

  7. Freitag JJ, Martin KJ, Conrades MB, Ballarin-Font E, Teitelbaum S, Klahr S, Slatopolsky E (1979) Evidence for skeletal resistance to parathyroid hormone in magnesium deficiency. Studies in isolated perfused bone. J Clin Invest 64:1238–1244

    PubMed  Google Scholar 

  8. Whang R, Oei TO, Aikawa JK, Watanabe A, Vannatta J, Fryer A, Markanich M (1984) Predictors of hypomagnesemia. Hypokalemia, hypophosphatemia, hyponatremia and hypocalcemia. Arch Intern Med 144:1794–1796

    PubMed  Google Scholar 

  9. Whang R, Flink EB, Dyckner T, Wester PO, Aikawa JK, Ryan MP (1985) Magnesium depletion as a cause of refractory potassium repletion. Arch Intern Med 145: 1686–1689

    PubMed  Google Scholar 

  10. Freeman RM, Pearson E (1966) Hypomagnesemia of unknown etiology. Am J Med 41:645–656

    PubMed  Google Scholar 

  11. Evans RA, Carter JN, George CRP, Walls RS, Newland RC, McDonnell GD, Lawrence JR (1981) The congenital “magnesium-losing kidney”. Report of two patients. Q J Med 50:39–52

    PubMed  Google Scholar 

  12. Hedemann L, Strunge P, Munck V (1986) The familial magnesium-losing kidney. Acta Med Scand 219:133–136

    PubMed  Google Scholar 

  13. Booth BE, Johanson A (1974) Hypomagnesemia due to renal tubular defect in reabsorption of magnesium. J Pediatr 84:350–354

    PubMed  Google Scholar 

  14. Milazzo SC, Ahern MJ, Cleland LG, Henderson DRF (1981) Calcium pyrophosphate dihydrate deposition disease and familial hypomagnesemia. J Rheumatol 8:767–771

    PubMed  Google Scholar 

  15. Geven W, Monnens L, Willems H, Buijs W, ter Haar B (1987) Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int 31:1140–1144

    PubMed  Google Scholar 

  16. Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79:221–233

    PubMed  Google Scholar 

  17. Klingberg WG (1970) Idiopathic hypomagnesemia and osteochondritis. Pediatr Res 4:452

    Google Scholar 

  18. McCredie DA, Blair-West JR, Scoggins BA, Shipman R, Chir B (1971) Potassium-losing nephropathy of childhood. Med J Aust 1:129–135

    PubMed  Google Scholar 

  19. Paunier L, Sizonenko PC (1976) Asymptomatic chronic hypomagnesemia and hypokalaemia in a child: cell membrane disease?. J Pediatr 88:51–55

    PubMed  Google Scholar 

  20. Spencer RW, Voyce MA (1976) Familial hypokalaemia and hypomagnesemia. A further familiy. Acta Paediatr Scand 65:505–507

    PubMed  Google Scholar 

  21. Sutton RAL, Mavichak V, Wilkins GE (1985) Bartter's syndrome with hypocalciuria-A distal tubular defect? Clin Res 33:85A

    Google Scholar 

  22. Uribarri J, Alveranga D, Oh MS, Kukar NM, Del Monte ML, Carroll HJ (1985) Bartter's syndrome due to a defect in salt reabsorption in the distal convoluted tubule. Nephron 40:52–56

    PubMed  Google Scholar 

  23. Rodríguez-Soriano J, Vallo A, Castillo G, Oliversos R (1981) Renal handling of water and sodium in infancy and childhood: a study using clearance methods during hypotonic saline diuresis. Kidney Int 20:700–704

    PubMed  Google Scholar 

  24. Rude RK, Bethune JE, Singer FR (1980) Renal tubular maximum for magnesium in normal, hyperparathyroid, and hypoparathyroid man. J Clin Endocrinol Metab 51: 1425–1431

    PubMed  Google Scholar 

  25. Morgan DB, Davidson C (1980) Hypokalemia and diuretics: an analysis of publications. Br Med J 280:905

    PubMed  Google Scholar 

  26. Leary WP, Reyes AJ (1984) Diuretic-induced magnesium losses. Drugs 28 (Suppl I):182–187

    PubMed  Google Scholar 

  27. Sutton RAL (1985) Diuretics and calcium metabolism. Am J Kidney Dis 5:4–9

    PubMed  Google Scholar 

  28. Gill JR Jr, Bartter FC (1978) Evidence for a prostaglandin-independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter's syndrome. Am J Med 65:766–772

    PubMed  Google Scholar 

  29. Fanconi A, Schachenmann G, Nüssli R, Prader A (1971) Chronic hypokalemia with growth retardation, normotensive hyperrenin-hyperaldosteronism (“Bartter's syndrome”), and hypercalciuria. Helv Paediatr Acta 26: 144–163

    PubMed  Google Scholar 

  30. Seyberth HW, Rascher W, Schweer H, Kühl PG, Mehls O, Schärer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107:694–701

    PubMed  Google Scholar 

  31. Rudin A, Sjögren B, Aurell M (1984) Low urinary calcium excretion in Bartter's syndrome. N Engl J Med 30:1190

    Google Scholar 

  32. Michelis MF, Drash AL, Linarelli LG, De Rubertis FR, Davis BB (1972) Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis (Evaluation of the pathophysiologic role of parathyroid hormone). Metabolism 21:905–920

    PubMed  Google Scholar 

  33. Runeberg L, Collan Y, Jokinen E, Lähdevirta J, Aro A (1975) Hypomagnesemia due to renal disease of unknown etiology. Am J Med 59:873–881

    Google Scholar 

  34. Manz F, Schärer K, Janka P, Lombeck J (1978) Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Eur J Pediatr 128:67–79

    PubMed  Google Scholar 

  35. Castrillo JM, Rapado A, Traba ML, Esbrit P, Hernando L (1983) Nefrocalcinosis con hipomagnesemia. Nefrologia (Madrid) 3:159–165

    Google Scholar 

  36. Ullmann A, Hadj S, Lacour B, Bourdeau A, Bader C (1985) Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: effect of oral phosphorus and magnesium supplements. Nephron 40:83–87

    PubMed  Google Scholar 

  37. Shafik IM, Green G (1987) Effects of magnesium on renal calcium excretion. Kidney Int 31:357

    Google Scholar 

  38. Sutton RAL, Watson L (1969) Urinary excretion of calcium and magnesium in primary hyperparathyrodism. Lancet I:1000–1003

    Google Scholar 

  39. Martínez ME, Salinas M, Herrero ME, Gómez P, García J, Sánchez-Sicilia L, Montero A (1985) Magnesium excretion in idiopathic hypercalciuria. Nephron 40:446–450

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Nephrology, Hospital Infantil de Cruces, Cruces-Baracaldo, Bilbao, Spain

    Juan Rodriguez-Soriano, Alfredo Vallo & Miguel García-Fuentes

  2. Basque University School of Medicine, Bilbao, Spain

    Juan Rodriguez-Soriano, Alfredo Vallo & Miguel García-Fuentes

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  1. Juan Rodriguez-Soriano
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  2. Alfredo Vallo
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  3. Miguel García-Fuentes
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Rodriguez-Soriano, J., Vallo, A. & García-Fuentes, M. Hypomagnesaemia of hereditary renal origin. Pediatr Nephrol 1, 465–472 (1987). https://doi.org/10.1007/BF00849255

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