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DIFFERENTIATING FAMILIAL HYPOCALCIURIC HYPERCALCEMIA FROM PRIMARY HYPERPARATHYROIDISM Myrick C. Shinall, Jr., MD1; Kathryn McCrystal Dahir, MD2; James T. Broome, MD1
Цитата:
FHH is a rare genetic disorder generally resulting in asymptomatic
hypercalcemia of minimal clinical consequence. It is easily misdiagnosed as primary hyperparathyroidism because both entities can manifest as hypercalcemia with an inappropriately normal or elevated level of parathyroid hormone. The two disorders differ in renal processing of
calcium, and a number of indices of renal calcium excretion have been proposed to differentiate the two entities. However, the two disorders have considerable overlaps in their ranges on these indices making differentiation a challenge. There are many mutations in the Calcium Sensing Receptor (CaSR) gene associated with FHH and it is becoming increasingly recognized that the CaSR has broad functional variability.
Conclusion: The Calcium:Creatinine Clearance Index is the consensus biochemical test to differentiate between primary hyperparathyroidism and FHH. However, this test is still limited by a considerable indeterminate range, and definitive diagnosis of FHH requires genetic
testing. A combination of clinical suspicion, biochemical testing, and genetic analysis is required to differentiate primary hyperparathyroidism from FHH and thus spare patients with FHH from non-therapeutic operative treatment.
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