Primary hyperparathyroidism: genetic heterogeneity suggesting different pathogenesis in sporadic and familial forms of parathyroid hyperplasia and tumors

Autor: Calender, Alain, Cougard, Patrick
Zdroj: European Journal of Endocrinology; March 1996, Vol. 134 Issue: 3 p263-266, 4p
Abstrakt: Primary hyperparathyroidism (P-HPT) is a common disease whose prevalence has been estimated at between 1 per 1000 and 1 per 2000. Approximately 80–90% of the patients with P-HPT have a single gland adenoma and are sporadic cases. The remaining 10–20% of patients with P-HPT have a hyperplasia and/or adenoma involving two or more glands, and most of such cases occur with familial aggregation (1). Primary HPT is rarely related to a parathyroid carcinoma. In all cases, diagnosis is mainly based on biological criteria, such hypercalcemia (evaluated on total and ionized serum calcium), elevated circulating levels of parathormone (PTH), increased level of urinary calcium excretion and hypophosphoremia. In a few cases, diagnosis is related to classical clinical manifestations of chronic hypercalcemia, such as bone or stone disease, neuromuscular or gastrointestinal signs, or malignant hypercalcemia. The major goals in management of patients are, firstly, the prevention of obvious effects of chronic and
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