Albright's hereditary osteodystrophy

被引：12

作者：

Kapoor S. ^{[1
,2
]}

Gogia S. ^{[1
]}

Paul R. ^{[1
]}

Banerjee S. ^{[1
]}

机构：

[1] Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi

[2] M-439, Paschim Vihar

来源：

The Indian Journal of Pediatrics | 2006年 / 73卷 / 2期

关键词：

Albright's hereditary osteodystrophy; Gs alpha activity; Pseudo-pseudohypoparathyroidism; Pseudohypoparathyroidism;

D O I：

10.1007/BF02820210

中图分类号：

学科分类号：

摘要：

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characterstic phenotype and reduced Gs alpha activity in the same family.

引用

页码：153 / 156

页数：3

共 8 条

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[2]

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[3]

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[7]

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[8]

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