Fondazione IRCCS Policlinico San Matteo.
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Acta Biomed. 2022 Jun 6;93(S3):e2022194. doi: 10.23750/abm.v93iS3.13072.
Pseudohypoparathyroidism (PHP) is a rare disease, which can occur in the youth, characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH) in target organs. This condition encompasses different conditions which differ between one another by different clinical, biochemically, and genetic features.
Herein we report the clinical history of a boy with PHP1B with an interesting clinical presentation. He came in fact to the attention of the Emergency Department because of a spontaneously resolving epileptic attack, lasting about 15 minutes, characterized by loss of consciousness, fall to the ground, tonic-clonic shocks, and sphincter release. Moreover, the personal history was characterized by congenital long QT syndrome (LQTS), with a documented mutation of the KCNQ1 gene, treated with beta-blockers (nadolol).
The simultaneous presence of symptomatic acute hypocalcemia and long QT syndrome undoubtedly required particular attention both in the management of the onset and in the more in-depth subsequent diagnostics. In this regard, laboratory tests and molecular analyzes have proved to be crucial in the diagnostic process. Conclusions: this case underlines the diagnostic path complexity in patients with PTH elevation and the importance of considering all the possible differential diagnoses in order to undertake a timely and correct course of treatment.
假性甲状旁腺功能减退症（PHP）是一种罕见的疾病，可发生于青年时期，其特征为靶器官对甲状旁腺激素（PTH）抵抗导致低钙血症和高磷血症。这种病症包含不同的情况，这些情况在临床、生化和遗传特征上彼此不同。
在此，我们报告了一名 PHP1B 男孩的临床病史，他具有有趣的临床表现。他实际上是因为自发性缓解的癫痫发作而被送到急诊室的，该发作持续了大约 15 分钟，表现为意识丧失、倒地、强直-阵挛性抽搐和括约肌松弛。此外，个人病史的特征是先天性长 QT 综合征（LQTS），有 KCNQ1 基因突变的记录，用β受体阻滞剂（纳多洛尔）治疗。
症状性急性低钙血症和长 QT 综合征的同时存在无疑需要特别注意，无论是在发作的处理还是在更深入的后续诊断方面。在这方面，实验室检查和分子分析已被证明在诊断过程中至关重要。
该病例强调了甲状旁腺素升高患者的诊断路径复杂性，以及为了进行及时和正确的治疗而考虑所有可能的鉴别诊断的重要性。
