Zhang Jie, Guan Ming, Zhao Shiyong, Wu Suling, Weng Lingwei, Sheng Wenbin
Department of Pediatrics, Hangzhou Children's Hospital, Hangzhou, Zhejiang 310014, P.R. China.
Department of Otolaryngology, Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, P.R. China.
Exp Ther Med. 2022 Jul 28;24(3):597. doi: 10.3892/etm.2022.11534. eCollection 2022 Sep.
Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end-organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide-binding protein α stimulating () gene causes the half decreased bioactivity of the Gsα protein levels. Due to the diverse early clinical manifestations of PHP1A, a diagnosis of PHP1A is often easily overlooked and misdiagnosis or missed diagnosis is common. The present study described a girl who was initially diagnosed with hereditary multiple exostoses, but was afterwards confirmed with PHP1A. Moreover, genetic analysis indicated a new mutation (c2277deIC) of the gene.
1A型假性甲状旁腺功能减退症（PHP1A）是一种罕见的遗传性疾病，其特征为终末器官对甲状旁腺激素抵抗以及奥尔布赖特遗传性骨营养不良。鸟嘌呤核苷酸结合蛋白α刺激（Gsα）基因突变导致Gsα蛋白水平生物活性减半。由于PHP1A早期临床表现多样，PHP1A的诊断常易被忽视，误诊或漏诊很常见。本研究描述了一名最初被诊断为遗传性多发性骨软骨瘤，但后来确诊为PHP1A的女孩。此外，基因分析表明该基因存在一个新的突变（c2277deIC）。
