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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Albright Hereditary Osteodystrophy: A Case Report
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Albright Hereditary Osteodystrophy: A Case Report

机译:奥尔布赖特遗传性骨营养不良:一例报告

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A dental practitioner with an eagle?s eye can diagnose many hidden disease through careful examination of the oral cavity. One such hereditary metabolic disorder is Albright hereditary osteodystrophy (AHO). Characteristic presentations in an individual affected by AHO were short stature, obesity and brachydactyly especially of 4th and 5th digits, which are the phenotypic features of genetic mutation. Pseudohypoparathyroidism (PHP) is characterized by inability of the body to respond appropriately to parathormone, mainly characterized by hypocalcemia, increased serum parathormone concentration, insensitivity to the biological activity of parathormone and hyperphosphatemia. AHO when seen in association with resistance to parathormone (PTH), it is called PHP. Here is, a case report of 32-year-old male patient with AHO with distinctive physical characteristics and oral manifestations
机译:拥有鹰眼的牙医可以通过仔细检查口腔来诊断许多隐藏的疾病。一种这样的遗传性代谢疾病是奥尔布赖特遗传性骨营养不良症(AHO)。受AHO影响的个体的特征表现是身材矮小,肥胖和短肢畸形,尤其是第4位和第5位,这是遗传突变的表型特征。伪性甲状旁腺功能低下症(PHP)的特征是人体无法对副甲状腺激素做出适当的反应,其主要特征是低血钙症,血清副甲状腺激素浓度升高,对副甲状腺激素的生物学活性不敏感和高磷酸盐血症。当将AHO与抗副激素(PTH)结合使用时,它称为PHP。这是一例具有独特身体特征和口腔表现的32岁男性AHO患者的报告

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