A Case of Pseudohypoparathyroidism without Albright's Hereditary Osteodystrophy in an Adult

Yoonbum Lee, J. Roh, J. Yoo, J. Han, J. Nam, M. Cho, J. Park, C. Ahn, K. Kim
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引用次数: 1

Abstract

Pseudohypoparathyroidism is a rare disease caused by resistance to parathyroid hormone, and is associated with typical clinical typical symptoms such as tetany and seizures, hypocalcemia, hyperphosphatemia and increased parathyroid hormone levels. Pseudohypoparathyroidism is classified to Type Ia, Ib, Ic and II according to the clinical and biochemical manifestations. Type Ia and Ic have morphological characteristics called Albright's hereditary osteodystrophy. Type Ib differs from type II for the pathogenesis. Type Ib mayreceptors and type II maypathway, but the pathophysiology of type II is not clear yet. Administration of parathyroid hormone extract may help to distinguish between the two types. We report a case of a pseudohypoparathyroidism type Ib or II patient who had tetany, hypocalcemia and hyperphosphatemia with normal morphologic features.
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成人假性甲状旁腺功能减退无Albright遗传性骨营养不良1例
假性甲状旁腺功能减退症是一种罕见的由甲状旁腺激素抵抗引起的疾病,并伴有典型的临床典型症状,如抽搐和癫痫发作、低钙血症、高磷血症和甲状旁腺激素水平升高。假性甲状旁腺功能减退症根据临床和生化表现分为Ia型、Ib型、Ic型和II型。Ia型和Ic型具有称为奥尔布赖特遗传性骨营养不良的形态学特征。在发病机制上,Ib型与II型不同。Ib型受体和II型通路,但II型的病理生理机制尚不清楚。甲状旁腺激素提取物的管理可能有助于区分这两种类型。我们报告一例假性甲状旁腺功能低下的Ib或II型患者谁有抽搐,低钙血症和高磷血症与正常的形态特征。
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