全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...
-  2014 

Familial Hypocalciuric Hypercalcemia and Calcium Sensing Receptor

Keywords: Hypercalcemia, congenital, Receptors, calcium sensing, Hypercalcemia – drug therapy

Full-Text   Cite this paper   Add to My Lib

Abstract:

Sa?etak Familial hypocalciuric hypercalcemia (FHH ) is a lifelong, benign autosomal dominant disease characterized by hypercalcemia, normal to increased parathyroid hormone level, and a relatively low renal calcium excretion. Inactivation of the calcium-sensing receptor in heterozygous patients results in FHH , while in homozygous patients as well as in compound heterozygous or dominant negative heterozygous patients, it may result in neonatal severe hyperparathyroidism (NSHPT ). Parathyroid surgery is not indicated in FHH and does not lower plasma calcium unless total parathyroidectomy is performed, in which case hypocalcemia ensues. There is currently no definitive medical treatment available, although pamidronate can be used to stabilize these patients before parathyroidectomy. Some NSHPT patients are asymptomatic subsequently in their lives. In this paper, clinical characteristics of this relatively rare disorder are presented

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133