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題名 | Characterization of Albright Hereditary Osteodystrophy and Related Disorders=Albright氏遺傳性骨發育不全及相關疾病的特徵 |
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作者 | Koo,Brian B.; Schwindinger,William F.; Levine,Michael A.; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 36:1 民84.01-02 |
頁次 | 頁3-13 |
分類號 | 416.26 |
關鍵詞 | Albright氏遺傳性骨發育不全; G proteins; Parathyroid hormone; Pseudohypoparathyroidism; Signal transduction; |
語文 | 英文(English) |
英文摘要 | Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder with characteristic skeletal and developmental defects and reduced expression or activity of the a chain of the G protein that stimulates adenylyl cyclase (G[S]α). Most patients with AHO exhibit target tissue resistance to multiple hormones whose actions are mediated by cyclic AMP (cAMP) as a second messenger, such as the parathyroid hormone (PTH). This form of the disorder is known as pseudohypoparathyroidism (PHP) type Ia. Patients with PHP type Ia usually have relatives with AHO who do not exhibit hormone resistance despite having the same defect in G[S]α. This variant, yet unexplained, is known as pseudo-pseudohypoparathyroidism (PPHP). PHP type lb is manifested by a limited hormone resistance to PTH and is believed to be caused by defects in the PTH receptor. Patients with PHP type Ic have normal G[S]α activity and show morphologic defects similar to those in AHO as well as resistance to multiple hormones. PHP type II, a much rarer disease, is probably caused by vitamin D deficiency. |
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