Michałus Izabela, Łupińska Anna, Woch Izabela, Wieczorek-Szukała Katarzyna, Chlebna-Sokół Danuta, Lewiński Andrzej
Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.
Department of Paediatric Endocrinology, Medical University of Lodz, 90-419 Lodz, Poland.
J Clin Med. 2022 Aug 8;11(15):4622. doi: 10.3390/jcm11154622.
Hypophosphatemic rickets is a rare disease that results in bone deformities. However, little is known about bone turnover and bone mass disorders in this disease. This retrospective study included 12 children aged 1-16 years diagnosed with hypophosphatemic rickets. Parameters of calcium-phosphate metabolism and bone turnover markers were analysed. Bone mineral density was assessed with the use of dual-energy X-ray absorptiometry, and indices of quantitative ultrasound examination of tibiae and radial bones were analysed. In the majority of patients, hypophosphatemia and hyperphosphaturia were present. The assessed bone turnover markers showed increased bone formation. Increased pyridinoline levels were found in 5 out of 12 patients. Bone mineral density was decreased only in one patient. Decreased values of quantitative ultrasound examination were observed in all the analysed patients. Conclusions: (1) Bone metabolism disturbances, reflected in the increased values of bone turnover markers and worse bone quality, were found in the group of patients with hypophosphatemic rickets. (2) It is crucial to determine bone turnover markers, dual-energy X-ray absorptiometry findings and indices of quantitative ultrasound examination in order to monitor progress of the disease, as well as treatment effects.
低磷性佝偻病是一种导致骨骼畸形的罕见疾病。然而，对于该疾病中的骨转换和骨量紊乱了解甚少。这项回顾性研究纳入了12名年龄在1至16岁之间被诊断为低磷性佝偻病的儿童。分析了钙磷代谢参数和骨转换标志物。使用双能X线吸收法评估骨密度，并分析胫骨和桡骨定量超声检查指标。大多数患者存在低磷血症和高磷尿症。所评估的骨转换标志物显示骨形成增加。12名患者中有5名吡啶啉水平升高。仅1例患者骨密度降低。所有分析患者的定量超声检查值均降低。结论：（1）在低磷性佝偻病患者组中发现了骨代谢紊乱，表现为骨转换标志物值升高和骨质量变差。（2）确定骨转换标志物、双能X线吸收法结果和定量超声检查指标对于监测疾病进展以及治疗效果至关重要。
