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Calcium metabolism in the jansen type of metaphyseal dysplasia

  • Medical Genetics
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Abstract

The Jansen type of metaphyseal dysplasia (JMD) is a rare disorder characterized by growth disturbance and progressive metaphyseal changes initially reminiscent of rickets or primary hyperparathyroidism. Seven of the 16 patients described until now presented with hypercalcaemia of unknown origin. We report studies of calcium metabolism in a hypercalcaemic girl with JMD during the first 3 years of life. The patient presented with hypercalcaemia, hypercalciuria, elevated urinary phosphate and cyclic adenosine monophosphate (AMP) excretion as well as increased 1,25-dihydroxyvitamin D concentrations in serum despite suppressed or low normal values of circulating intact parathyroid hormone (PTH) and PTH related peptide (PTHrP). Measurements of biochemical indices of bone turnover indicated increased bone resorption without sufficient compensatory bone formation. The study suggests that the hypercalcaemia in our patient was caused by an unknown factor, which is not PTH or PTHrP, with osteolytic activity and stimulatory effect on the proximal kidney tubule.

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Abbreviations

AP:

alkaline phosphatase

cAMP:

cyclic adenosine-3′,5′-monophosphate

Cr:

creatinine

25-OHD:

25-hydroxyvitamin D, 1

25(OH)2D=1:

25-dihydroxyvitamin D

JMD:

Jasen type of metaphyseal dysplasia

OH-P:

hydroxyproline

PTH:

parathyroid hormone

PTHrP:

parathyroid hormone related peptide

TMP/GFR:

tubular maximal rate of phosphate absorption in relation to the glomerular filtration rate

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Authors and Affiliations

  1. Department of Paediatrics, Medical University of Lübeck, Kahlhorststrasse 31-35, D-23538, Lübeck, Germany

    K. Kruse

  2. Department of Paediatrics, Klinik St. Hedwig, D-93049, Regensburg, Germany

    C. Schütz

Authors
  1. K. Kruse
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  2. C. Schütz
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Kruse, K., Schütz, C. Calcium metabolism in the jansen type of metaphyseal dysplasia. Eur J Pediatr 152, 912–915 (1993). https://doi.org/10.1007/BF01957529

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  • DOI: https://doi.org/10.1007/BF01957529

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