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Hemoglobin-oxygen affinity in hypophosphatemic rickets.

P Munk, M H Freedman, M L Greenberg

    Acta Paediatrica Scandinavica
    |January 1, 1976
    PubMed
    Summary

    Short stature in X-linked hypophosphatemic rickets is not due to chronic tissue hypoxia. Red blood cell phosphate levels remain normal despite low serum inorganic phosphorus in these patients.

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    Area of Science:

    • Pediatric Endocrinology
    • Biochemistry
    • Genetics

    Background:

    • X-linked hypophosphatemic rickets (XLH) is a genetic disorder characterized by impaired phosphate reabsorption.
    • Short stature is a common clinical manifestation in patients with XLH.
    • The underlying mechanisms contributing to short stature in XLH are not fully understood.

    Purpose of the Study:

    • To investigate the oxygen transport status in patients with XLH.
    • To determine if chronic tissue hypoxia contributes to short stature in XLH.
    • To assess intra-erythrocytic organic phosphate levels in the context of hypophosphatemia.

    Main Methods:

    • Studied 14 patients diagnosed with simple X-linked hypophosphatemic rickets.
    • Measured serum inorganic phosphorus levels.
    • Assessed red blood cell 2,3-diphosphoglycerate (2,3-DPG) and adenosine triphosphate (ATP) levels.
    • Determined the P50 value, an indicator of oxygen transport.

    Main Results:

    • Five patients were below the third percentile for height, and nine were between the third and twenty-fifth percentiles.
    • Mean serum inorganic phosphorus was significantly low (2.01 +/- 0.65 mg/100 ml).
    • Mean red cell 2,3-DPG (4.78 +/- 1.23) and ATP (1.02 +/- 0.17 mumol/ml) levels were normal.
    • The mean P50 value was normal (26.4 +/- 0.9 mmHg).

    Conclusions:

    • Normal oxygen transport data suggest that chronic tissue hypoxia is unlikely to be the cause of short stature in XLH.
    • Intra-erythrocytic organic phosphate levels are maintained despite profound chronic hypophosphatemia in XLH patients.
    • These findings provide insights into the metabolic adaptations in XLH and their impact on growth.

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