Divisão de Endocrinologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil,
Laboratório de Bioquímica, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, RJ, Brasil.
Arch Endocrinol Metab. 2021 Nov 3;65(3):289-294. doi: 10.20945/2359-3997000000347. Epub 2021 Apr 12.
Alkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose of this study was to search for patients with hypophosphatasemia based on previous biochemistry tests and reevaluate them to confirm the diagnosis of HPP.
A total of 289,247 biochemical tests for ALP in adults were performed from 2015 to 2019 in two tertiary hospitals in Rio de Janeiro were reviewed (Clementino Fraga Filho University Hospital - HUCFF - and Bonsucesso Federal Hospital - BFH).
A total of 1,049 patients were identified with ALP levels below 40 U/L, and 410 patients had hypophosphatasemia confirmed by at least two exams. After the active search of medical reports and/or interviews based on structured questionnaires, 398 subjects were excluded due to secondary causes of reduced ALP. The remaining 12 patients were invited to attend the medical consultation at HUCFF, accompanied by at least one first-degree relative. None of the patients or their relatives had a history or clinical manifestations consistent with HPP. Serum ALP was within reference values in all relatives, but persistently low in further laboratory evaluation in all the 12 patients, in whom secondary causes were ruled out. Thus, we cannot exclude the possibility that they might carry the mutations associated with HPP.
Further image evaluations and genetic testing would be appropriate to confirm this asymptomatic adult form of HPP.
碱性磷酸酶（ALP）是低磷酸酶血症（HPP）的主要实验室标志物，大多数医生都不了解这种罕见疾病。由于 HPP 的多种表型，HPP 的患病率在文献中被广泛讨论。本研究的目的是根据以前的生化检查寻找低磷酸血症患者，并重新评估他们以确认 HPP 的诊断。
对 2015 年至 2019 年在里约热内卢的两家三级医院（Clementino Fraga Filho 大学医院 - HUCFF 和 Bonsucesso 联邦医院 - BFH）进行的 289247 项成人 ALP 生化检查进行了回顾性分析。
共发现 1049 例 ALP 水平低于 40 U/L 的患者，410 例患者通过至少两次检查证实存在低磷酸血症。在根据结构化问卷进行主动搜索医疗报告和/或访谈后，由于次要原因导致 ALP 降低，398 例患者被排除在外。其余 12 名患者被邀请到 HUCFF 参加医疗咨询，至少有一名一级亲属陪同。这些患者或其亲属均无 HPP 的病史或临床表现。所有亲属的血清 ALP 均在参考值范围内，但在所有 12 名患者的进一步实验室评估中均持续偏低，排除了次要原因。因此，我们不能排除他们可能携带与 HPP 相关的突变的可能性。
进一步的影像学评估和基因检测将有助于确认这种无症状的成人 HPP 形式。
