Albright's hereditary osteodystrophy.
نویسندگان
چکیده
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 characteristic phenotype and reduced Gs alpha activity in the same family.
منابع مشابه
Coexisting primary hyperparathyroidism and Albright's hereditary osteodystrophy--an unusual association.
Primary hyperparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed in a 22 year old Japanese woman, the second such case to be reported. Albright's hereditary osteodystrophy (AHO) appears to be associated with a larger number of disorders than the well recognized pseudohypoparathyroidism. AHO and pseudo-pseudohypoparathyroidism are essentially identical.
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ورودعنوان ژورنال:
- Indian journal of pediatrics
دوره 73 2 شماره
صفحات -
تاریخ انتشار 2006