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[Familial hypocalciuric hypercalcemia: two case reports (author's transl)]
Annales De Medecine Interne
|January 1, 1982
Summary
Familial hypocalciuric hypercalcemia (FHH) presents with high calcium but low urinary calcium. This genetic disorder requires familial evaluation, as surgery is often ineffective.
Area of Science:
- Endocrinology
- Genetics
- Nephrology
Context:
- Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder.
- Distinguishing FHH from primary hyperparathyroidism is clinically significant.
Purpose:
- To report two cases of FHH.
- To review the literature on FHH diagnosis and management.
- To highlight diagnostic challenges and treatment considerations.
Summary:
- Two FHH cases presented with hypercalcemia, hypophosphatemia, and hypocalciuria.
- Parathyroid glands showed mild hyperplasia; surgery was ineffective.
- Serum PTH and urinary cAMP levels did not differentiate FHH from primary hyperparathyroidism.
- Bone histology was normal despite elevated PTH.
Impact:
- FHH diagnosis necessitates familial screening due to its autosomal dominant inheritance.
- Understanding FHH's benign nature and contraindications for surgery is crucial for patient management.
- This review aids clinicians in diagnosing and managing FHH, preventing unnecessary interventions.