Michałus Izabela, Gawlik Aneta, Wieczorek-Szukała Katarzyna, Lewiński Andrzej
Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.
Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences, Medical University of Silesia, 40-759 Katowice, Poland.
Diagnostics (Basel). 2022 Mar 30;12(4):865. doi: 10.3390/diagnostics12040865.
Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene. Low activity of the alkaline phosphatase (ALP) impairs the hydroxyapatite formation, reducing skeletal mineralization. The aim of the study was to present patients diagnosed with HPP. The data from the history and medical records of patients were analyzed. In the study group, one patient was diagnosed with perinatal type of HPP, three were diagnosed with infant variant, eight were diagnosed with children variant, two were diagnosed with odontohypophosphatasia, and two were diagnosed with the adult type of the disease. The most frequently presented symptoms included premature loss of teeth in 11/16 (68.75%) patients, bone deformities in 10/16 (62.5%) patients, chronic bone pain in 9/16 (56.25%) patients, and fractures in 8/16 (50%) patients. Reduction in bone mineral density in at least one examined projection has been found in 11/14 patients. Conclusions: The correct diagnosis of HPP is difficult due to the variety of types and clinical symptoms, as well as the very rare occurrence of this disease. Both lower and upper reference values of the determined biochemical parameters may be important in HPP diagnostics.
低磷酸酯酶症（HPP）是一种罕见的、通常诊断延迟的遗传性疾病，由碱性磷酸酶肝/骨/肾型（ALPL）基因突变引起。碱性磷酸酶（ALP）活性降低会损害羟基磷灰石的形成，减少骨骼矿化。本研究的目的是介绍诊断为HPP的患者。分析了患者的病史和病历数据。研究组中，1例患者被诊断为围生期型HPP，3例被诊断为婴儿型变异，8例被诊断为儿童型变异，2例被诊断为牙本质低磷酸酯酶症，2例被诊断为成人型疾病。最常见的症状包括11/16（68.75%）的患者牙齿过早脱落、10/16（62.5%）的患者骨骼畸形、9/16（56.25%）的患者慢性骨痛以及8/16（50%）的患者骨折。11/14的患者在至少一个检查部位发现骨密度降低。结论：由于HPP类型多样、临床症状各异且发病率极低，因此正确诊断较为困难。所测定生化参数的上下参考值在HPP诊断中可能都很重要。
