Abstract
Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years. Acid loading revealed incomplete distal tubular acidosis. Hypomagnesemia was due to renal magnesium wasting. It is suggested that the defect in tubular transport of magnesium is an important factor in the pathogenesis of this syndrome.
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Barnes, B. A.: Magnesium conservation: A study of surgical patients. Ann. N.Y. Acad. Sci. 162, 786–801 (1969)
Booth, B. E., Johanson, A.: Hypomagnesemia due to renal tubular defect in reabsorption of magnesium. J. Pediat. 85, 350–354 (1974)
Broyer, M., Proesmans, W., Royer, P.: La titration des bicarbonates chez l'enfant normal et au cours de diverses néphropathies. Rev. franç. Et. clin. biol. 14, 556–567 (1969)
Edelmann, C. M., Jr., Boichis, H., Rodriguez-Soriano, J., Stark, H.: The renal response of children to acute ammonium chloride acidosis. Pediat. Res. 1, 452–460 (1967)
Fanconi, A.: Hypoparathyreoidismus im Kindesalter. In: Ergebn. inn. Med. Kinderheilk. N.F. 28, pp. 54–119. Berlin-Heidelberg-New York: Springer 1969
Fourman, P., Robinson, J. R.: Diminished urinary excretion of citrate during deficiencies of potassium in man. Lancet 1953 I, 656–657
Freeman, R. M., Pearson, E.: Hypomagnesemia of unknown etiology. Amer. J. Med. 41, 645–656 (1966)
Ghazali, S., Hallett, R. J., Barratt, T. M.: Hypomagnesemia in uremic infants. J. Pediat. 81, 747–750 (1972)
Gitelman, H. J., Graham, J. B., Welt, L. G.: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Ass. amer. Physicians 79, 221–233 (1966)
Hanna, S.: Plasma magnesium in health and disease. J. clin. Path. 14, 410–414 (1961)
Heaton, F. W.: The kidney and magnesium homeostasis. Ann. N. Y. Acad. Sci. 162, 775–785 (1969)
King, R. G., Stanbury, S. W.: Magnesium metabolism in primary hyperparathyroidism. Clin. Sci. 39, 281–303 (1970)
Klingberg, W. G.: Idiopathic hypomagnesemia and osteochondritis. Pediat. Res. 4, 452 (1970)
Lifshitz, F., Harrison, H. C., Bull, E. C., Harrison, H. E.: Citrate metabolism and the mechanism of renal calcification induced by magnesium depletion. Metabolism 16, 345–357 (1967)
Lombeck, I., Ritzl, F., Schnippering, H. G., Michael, H., Feinendegen, L. E., Kosenow, W., Becker, K., Bremer, H. J.: Primäre Hypomagnesiämie. Resorption von Magnesium und Strontium. In: Spurenelemente in der Entwicklung von Mensch und Tier, K. Betke, F. Bidlingmaier, eds., pp. 259–267. München-Berlin-Wien: Urban & Schwarzenberg 1975
Lombeck, I., Ritzl, F., Schnipperding, H. G., Michael, H., Bremer, H. J., Feinendegen, L. E., Kosenow, W.: Primary hypomagnesemia. Z. Kinderheilk. 118, 249–258 (1975)
Manz, F., Schärer, K., Lombeck, I.: Renal magnesium wasting with incomplete distal tubular acidosis in sibs. Arch. Dis. Childh. 52, 421–422 (1977)
Martin, H. E.: Clinical magnesium deficiency. Ann. N.Y. Acad. Sci. 162, 891–900 (1969)
Massry, S. G., Coburn, J. W.: The hormonal and non-hormonal control of renal excretion of calcium and magnesium. Nephron 10, 66–112 (1973)
Massry, S. G., Seelig, M. S.: Hypomagnesemia and hypermagnesemia. Clin. Nephrology 7, 147–153 (1977)
Mehls, O.: Therapie der urämischen Osteopathie. Mschr. Kinderheilk. 123, 774–776 (1975)
Michelis, M. F., Drash, A. L., Linarelli, L. G., De Rubertis, F. R., Davis, B. B.: Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal tubular acidosis. Metabolism 21, 905–920 (1972)
Passer, J.: Incomplete distal renal tubular acidosis in hypomagnesemia-dependent hypocalcemia. Arch. intern. Med. 136, 462–465 (1975)
Paunier, L., Radde, I. C., Kooh, S. W., Conen, P. E., Fraser, D.: Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41, 385–402 (1968)
Paunier, L., Sizonenko, P. O.: Asymptomatic chronic hypomagnesemia and hypokalemia in a child: Cell membrane disease? J. Pediat. 88, 51–55 (1976)
Peacock, M., Knowles, F., Nordin, B. E. C.: Effect of calcium administration and deprivation on serum and urine calcium in stone-forming and control subjects. Brit. med. J. 1968 II, 729–731
Randall, R. E., Jr.: Magnesium metabolism in chronic renal disease. Ann. N.Y. Acad. Sci. 162, 831–846 (1969)
Rodriguez-Soriano, J.: The renal regulation of acid-base balance and the disturbances noted in renal tubular acidosis. In: The Pediatric Clinics of North America. Pediatric nephrology, C. M. Edelmann, ed., Vol. 18;2, pp. 529–545. Philadelphia-London-Toronto: Saunders 1971
Royer, P., Habib, R., Mathieu, H.: Nephrologie im Kindesalter. Neue Wege der renalen Untersuchung beim Kind, p. 5. Stuttgart: Thieme 1967
Royer, P.: Hypercalciurie idiopathique. In: Néphrologie pédiatrique, P. Royer, R. Habib, H. Mathieu, M. Broyer, eds., pp. 57–59. Paris: Flammarion 1973
Runeberg, L., Collan, Y., Jokinen, E. J., Lähdevirta, J., Aro, A.: Hypomagnesemia due to renal disease of unknown etiology. Amer. J. Med. 59, 873–881 (1975)
Schärer, K.: Incomplete renal tubular acidosis with hypercalciuria in siblings. Pediat. Res. 5, 92 (1971)
Sebastian, A., McSherry, E., Morris, R. C., Jr.: Metabolic acidosis with special reference to the renal acidosis. In: The kidney, M. B. Brenner, F. C. Rector, Jr., eds., Vol. 1, pp. 615–660. Philadelphia-London-Toronto: Saunders 1976
Wrong, O., Davies, H. E. F.: The excretion of acid in renal disease. Quart. J. Med. 28, 259–313 (1959)
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Dedicated to Prof. Dr. H. Bickel on the occasion of his 60th birthday
Supported by the German Research Foundation within the SFB 90 “Cardiovaskuläres System” and grant Lo/260/1
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Manz, F., Schärer, K., Janka, P. et al. Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Eur J Pediatr 128, 67–79 (1978). https://doi.org/10.1007/BF00496992
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DOI: https://doi.org/10.1007/BF00496992