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IDENTIFICATION OF PATIENTS WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

IDENTIFICATION OF PATIENTS WITH FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
家族性低钙血症高钙血症患者的识别
批准号：
5218438
负责人：
SALLY CARTY
金额：
$0.0万
依托单位：
--
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/5218438
关键词：
autosomal dominant trait clinical research diagnosis design /evaluation genetic disorder genetic disorder diagnosis human subject hypocalcemia longitudinal human study

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中文摘要
翻译
本研究对家族性低钙血症家庭进行前瞻性调查
英文摘要
This prospective investigation of families with Familial Hypocalciuric Hypercalcemia (FHH) will clarify the molecular genetics of the disorder and assess currently available diagnostic tests. Familial hypocalciuric hypercalcemia, which has also been known as familial benign hypercalcemia, is an autosomal dominantly inherited disorder. FHH begins with hypercalcemia in childhood and is usually asymptomatic throughout the patient's life. The major morbidity of the disorder is that it is often confused with primary hyperparathyroidism, resulting in unnecessary neck exploration.
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会议论文
IDENTIFICATION OF PATIENTS W/ FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
IDENTIFICATION OF PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE I
IDENTIFICATION OF PATIENTS W/ FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
IDENTIFICATION OF PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE I
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