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THE FAMILIAL HYPOCALCIURIC HYPERCALCEMIA PRESENTED WITH ADVANCED HYPERCALCEMIA AND EXTREMELY HIGH PARATHORMON LEVELS (CASE REPORT).

Georgian medical news - 1 Oct 2021

Cengiz H, Varim C, Demirci T, Cetin S, Karacaer C, Koçer H

Abstract excerpt

Familial Hypocalciuric Hypercalcemia (FHH) is a rare benign condition inherited in an autosomal dominant pattern with high penetrance. This rare genetic condition is detected in approximately 2% of cases examined as primary hyperparathyroidism (PH). The Calcium Sensing Receptor (CaSR) gene's inactivating mutations result in a calcium-parathormone level-saturation curve shift to the right. Generally, the calcium...

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PMID: 34749333

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