GENERAL HISTOLOGY

Detailed explanation-1: -Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition. It occurs as a result of mutations in the calcium-sensing receptor gene (CASR) that lead to decreased receptor activity. Patients typically have mild hypercalcemia, hypocalciuria, hypermagnesemia, and hypophosphatemia.

Detailed explanation-2: -Purpose of review: Hypercalcaemia is a potentially life-threatening condition. Familial hypocalciuric hypercalcaemia (FHH) is a rare, lifelong, benign condition. It is important to separate this condition from other hypercalcaemic states such as hypercalcaemia of malignancy and primary hyperparathyroidism (PHPT).

Detailed explanation-3: -Disruption of the normal calcium balance resulting from overactive parathyroid glands causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.