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[Hypophosphatemic osteomalacia in adults]
S Löhr-Schwaab1, C Wanner, W D Reinbold
1Abteilung Innere Medizin II der Medizinischen Klinik und Poliklinik, Universität Freiburg.
Deutsche Medizinische Wochenschrift (1946)
|April 7, 1989
Summary
This study details a case of hypophosphatemic osteomalacia in a 38-year-old woman, characterized by severe bone pain and fractures. Treatment involved phosphate supplementation and vitamin D, addressing defective renal phosphate reabsorption.
Area of Science:
- Endocrinology
- Nephrology
- Bone Metabolism
Background:
- Hypophosphatemic osteomalacia is a rare bone disorder characterized by impaired mineralization.
- It results from defects in phosphate handling, leading to low serum phosphate levels.
Observation:
- A 38-year-old woman presented with severe bone pain, fractures, and skeletal demineralization.
- Radiological findings included Looser's zones and reduced bone hydroxyapatite.
- Histology revealed absent osteoclasts and extensive bone demineralization.
Findings:
- The patient exhibited hypophosphatemia (0.48 mmol/l), increased urinary phosphate clearance (36 ml/min), and reduced renal tubular reabsorption of phosphate (73%).
- Elevated alkaline phosphatase (355 U/l) was noted, with normal parathyroid hormone and 1,25-dihydroxyvitamin D levels.
- No underlying genetic, calcium metabolic, or paraneoplastic causes were identified.
Implications:
- Defective renal tubular reabsorption of phosphate is the probable cause of this patient's condition.
- Phosphate supplementation and intermittent vitamin D administration are the recommended therapeutic strategies.
- This case highlights the importance of identifying and managing renal phosphate wasting in osteomalacia.