课题基金 / 基金详情

IDENTIFICATION OF PATIENTS W/ FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

IDENTIFICATION OF PATIENTS W/ FAMILIAL HYPOCALCIURIC HYPERCALCEMIA
家族性低钙血症患者的识别
批准号：
6264139
负责人：
SALLY CARTY
金额：
$0.3万
依托单位：
UNIVERSITY OF PITTSBURGH AT PITTSBURGH
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6264139
关键词：
clinical research diagnosis design /evaluation genetic disorder human subject hypocalcemia longitudinal human study metabolism disorder diagnosis molecular pathology

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中文摘要
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英文摘要
Prospective investigation of families with 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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