IDENTIFICATION OF PATIENTS W/ FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

家族性低钙血症患者的识别

• 批准号: 6304612
• 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
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6304612
• 关键词: clinical research; diagnosis design /evaluation; genetic disorder; human subject; hypocalcemia; longitudinal human study; metabolism disorder diagnosis; molecular pathology

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.

对家族性低尿钙高钙血症（FHH）家族的前瞻性调查将阐明该疾病的分子遗传学，并评估目前可用的诊断测试。 家族性低尿钙性高钙血症，又称家族性良性高钙血症，是一种常染色体显性遗传疾病。 FHH在儿童时期开始于高钙血症，并且通常在患者的一生中无症状。 该病的主要发病率是常与原发性甲状旁腺功能亢进相混淆，导致不必要的颈部探查。