A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene . Disorders of calcium metabolism are very common in the elderly , and they can coexist with familial hypocalciuric hypercalcemia in affected families .We describe an Irish family with hypercalcemia and hypocalciuria . The proband , an 80 -year -old Irish woman , presented with hypercalcemia , relative hypocalciuria , and an elevated parathormone level . She also had chronic kidney disease stage 3 and vitamin D deficiency . Two of her sons were also found to be hypercalcemic and hypocalciuric . DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons .Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons . Disorders of calcium metabolism can be multifarious in the elderly . We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia .

Diseases
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Diseases presenting "calcium metabolism" symptom

familial hypocalciuric hypercalcemia

kabuki syndrome

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