儿童假性甲状旁腺功能减退1例

G. V. Ivanenko, L. O. Iatsun, E. Globa
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引用次数: 0

摘要

我们描述了一个治疗儿童假性甲状旁腺功能低下的临床病例-病理特征为钙和磷酸盐代谢紊乱,特定表型,以及经常伴有身体和智力发育迟缓。提出了一个病例记录的孩子谁咨询内分泌学家和曾被诊断为先天性甲状腺功能减退症。我们已经描述了患者的临床方面的疾病,他们出现的阶段,回顾性动态实验室值对比以往的治疗背景,基因研究的结果,这使我们能够确认假性甲状旁腺功能减退症的诊断。重点放在鉴别诊断的重要性钙和磷酸盐代谢紊乱的儿童,特别是那些有激素抵抗的迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical case of pseudohypoparathyroidism in a child
We have described a clinical case of treatment of a child with pseudohypoparathyroidism — pathology characterized by calcium and phosphate metabolic disorder, specific phenotype, as well as often accompanied by delay in physical and intellectual development. Presented is the case record of a child who consulted an endocrinologist and had been previously diagnosed with congenital hypothyroidism. We have described clinical aspects of disease in the patient, phasing of their emergence, retrospective dynamics of lab values against the background of previous treatment, results of genetic research, which enabled us to confirm the diagnosis of pseudohypoparathyroidism. Emphasis is placed on importance of differential diagnostics of calcium and phosphate metabolic disorders in children, particularly in those with signs of hormone resistance.
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