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Hypercalciuria secondary to chronic hypophosphatemia
J F Navarro1, J L Teruel, C Montalban
1Department of Nephrology, Hospital Ramón y Cajal, Madrid, Spain.
Mineral and Electrolyte Metabolism
|January 1, 1994
Summary
This study details a rare genetic disorder causing bone pain and weakness. Treatment with phosphate supplements effectively resolved symptoms and normalized mineral levels in a patient with hereditary hypophosphatemic rickets with hypercalciuria.
Area of Science:
- Endocrinology
- Nephrology
- Bone Metabolism
Background:
- Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare genetic disorder characterized by renal phosphate wasting, leading to rickets/osteomalacia and hypercalciuria.
- Understanding the mineral metabolism derangements in HHRH is crucial for diagnosis and management.
Observation:
- A 41-year-old man presented with severe back pain, osteoporosis, and vertebral fractures.
- Laboratory findings included persistent hypophosphatemia, normocalcemia, elevated 1,25-dihydroxy-vitamin D, and low tubular maximal phosphate reabsorption.
- Bone biopsy confirmed osteomalacia, and hyperparathyroidism was excluded.
Findings:
- The patient exhibited a unique pattern of mineral imbalance consistent with a sporadic form of HHRH.
- Phosphate supplementation therapy led to complete resolution of symptoms.
- Normalization of serum phosphate, calcium, and vitamin D levels was observed post-treatment.
Implications:
- This case highlights the importance of considering HHRH in adults presenting with unexplained bone disease and hypophosphatemia.
- Phosphate repletion is an effective treatment for this condition, even in adult-onset presentations.
- Further research into the genetic basis and long-term outcomes of sporadic HHRH is warranted.