Karakostas P, Dolscheid-Pommerich R, Hass M D, Weber N, Brossart P, Schäfer V S
Klinik für Innere Medizin III, Onkologie, Hämatologie, Rheumatologie und Klinische Immunologie, Universitätsklinikum Bonn, Venusberg Campus 1, 53127, Bonn, Deutschland.
Institut für Klinische Chemie und Klinische Pharmakologie, Universitätsklinikum Bonn, Bonn, Deutschland.
Z Rheumatol. 2022 Aug;81(6):513-519. doi: 10.1007/s00393-021-00994-5. Epub 2021 Apr 14.
Hypophosphatasia (HPP) is a genetic disorder caused by one or more mutations in the alkaline phosphatase (ALP) gene, responsible for encoding tissue-specific ALP and for the mineralization process.
Identification of the prevalence of HPP in rheumatology patients.
Medical records of all adult rheumatology patients with pathologically low total ALP levels (<35 U/L) treated in the Department of Rheumatology at the Clinic of Internal Medicine III, University Hospital Bonn between January 2017 and June 2019, were retrospectively examined for clinical signs as well as for results of genetic tests for HPP.
In 60 out of 2289 patients (2.62%) pathologically low ALP levels were detected. Of these 30 (1.31%) were found to have persistently low ALP levels. Genetic testing for ALP gene mutations was performed in 19 of these 30 patients and 7 of the 19 patients (36.84%) had HPP signs (insufficiency fractures, or bad dental status since childhood), all with pathologic ALP mutations. Of these patients 3 (15.78%) each had a history of insufficiency fracture with normal bone densitometry. Overall, 13 out of the 19 patients (68.42%) had mutations in the ALP gene. Interestingly, no association with chondrocalcinosis was detected in any of the patients.
The HPP seems to be an underdiagnosed disease with a higher proportion of affected rheumatology patients. Therefore, future studies should aim to develop a diagnostic protocol in the clinical practice.
低磷酸酯酶症（HPP）是一种由碱性磷酸酶（ALP）基因中的一个或多个突变引起的遗传性疾病，该基因负责编码组织特异性ALP并参与矿化过程。
确定风湿病患者中HPP的患病率。
回顾性检查了2017年1月至2019年6月期间在波恩大学医院内科III诊所风湿病科接受治疗的所有成年风湿病患者的病历，这些患者的总ALP水平在病理上较低（<35 U/L），检查其临床体征以及HPP的基因检测结果。
在2289例患者中有60例（2.62%）检测到病理上较低的ALP水平。其中30例（1.31%）的ALP水平持续较低。对这30例患者中的19例进行了ALP基因突变的基因检测，19例患者中有7例（36.84%）有HPP体征（不全性骨折，或自幼牙齿状况不佳），均有病理ALP突变。这些患者中有3例（15.78%）有不全性骨折病史，骨密度测定正常。总体而言，19例患者中有13例（68.42%）存在ALP基因突变。有趣的是，在任何患者中均未检测到与软骨钙质沉着症的关联。
HPP似乎是一种诊断不足的疾病，在受影响的风湿病患者中比例较高。因此，未来的研究应旨在制定临床实践中的诊断方案。
