Albright's hereditary osteodystrophy: report of three cases

被引:0
|
作者
Bujan, Maria M.
Cervini, Andrea B.
Fano, Virginia
Pierini, Adrian M.
机构
来源
ARCHIVOS ARGENTINOS DE PEDIATRIA | 2010年 / 108卷 / 02期
关键词
hereditary osteodystrophy; Albright's syndrome; children; MUTATION;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathyroidism type Ia is associated with laboratory abnormalities such as hypocalcemia, and hyperphosphatemia due to parathormone resistance. Furthermore, these patients may present peripheral resistance to other hormones, such as gonadotrophins and thyroids. Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome.
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收藏
页码:E24 / E27
页数:4
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