tailieunhanh - báo cáo khoa học: " A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric "

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric | Elamin and de Buyl Journal of Medical Case Reports 2010 4 349 http content 4 1 349 jAg JOURNALOF medical ÌỤr case REPORTS CASE REPORT Open Access A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia a case report Wael F Elamin1 2 Olivier de Buyl 1 Abstract Introduction 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. Case presentation 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. Conclusion 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. Introduction Familial hypocalciuric hypercalcemia FHH is a rare autosomal dominant disease that runs a benign course. Its prevalence is not clearly established 1 . It is important to differentiate it from the much more common primary hyperparathyroidism PHPT to avoid unnecessary and potentially harmful parathyroidectomy 2 . It has been shown to result from heterozygous inactivating .