Zübarioğlu Tanyel, Bilen İnci Pınar, Kıykım Ertugrul, Doğan Beyza Belde, Enver Ece Öge, Cansever Mehmet Şerif, Zeybek Ayşe Çiğdem Aktuğlu
Division of Nutrition and Metabolism, Department of Pediatrics, İstanbul University-Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
Department of Pediatrics, University of Health Sciences, Şişli Etfal Training and Research Hospital, İstanbul, Turkey.
Turk Pediatri Ars. 2019 Jul 11;54(2):113-118. doi: 10.14744/TurkPediatriArs.2019.23281. eCollection 2019.
The primary purpose of the present study is to evaluate the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis.
This retrospective study was conducted between June 2013 and December 2018 with seven patients with cerebrotendinous xanthomatosis in Cerrahpasa Medical Faculty Pediatric Nutrition and Metabolism Department. The clinical, epidemiologic, and genotypic features of the patients were reviewed in detail and the following items, especially related with skeletal system involvement, were recorded from medical data: history of a bone fracture, plasma calcium, phosphate, alkaline phosphatase and 25-hydroxy-vitamin D concentrations, bone mineral density values of the posteroanterior lumbar spine (L1-L4), and femoral neck before and after chenodeoxycholic acid treatment.
Regarding the bone mineral metabolism, plasma calcium, phosphate, alkaline phosphatase levels were found in normal ranges in all patients. Plasma 25-hydroxy-vitamin D evaluation at the time of diagnosis showed deficiency in three patients and insufficiency in three patients. Following chenodeoxycholic acid therapy, 25-hydroxy-vitamin D deficiency persisted in only one patient, but insufficiency was observed in four patients. According to the bone mineral density assessments, four patients had Z-scores below the expected range for age both at initial examination and after chenodeoxycholic acid therapy. No significant difference was observed between plasma 25-hydroxy-vitamin D levels and bone mineral density Z-scores before or after treatment.
This study elucidates the necessity of additional medical treatment as a part of chenodeoxycholic acid therapy to improve skeletal system findings in cerebrotendinous xanthomatosis.
本研究的主要目的是评估鹅去氧胆酸治疗对脑腱黄瘤病患者骨骼系统表现的影响。
本回顾性研究于2013年6月至2018年12月在Cerrahpasa医学院儿科营养与代谢科对7例脑腱黄瘤病患者进行。详细回顾了患者的临床、流行病学和基因型特征，并从医疗数据中记录了以下项目，特别是与骨骼系统受累相关的项目：骨折史、血浆钙、磷、碱性磷酸酶和25-羟基维生素D浓度、鹅去氧胆酸治疗前后腰椎前后位（L1-L4）和股骨颈的骨密度值。
关于骨矿物质代谢，所有患者的血浆钙、磷、碱性磷酸酶水平均在正常范围内。诊断时的血浆25-羟基维生素D评估显示3例患者缺乏，3例患者不足。鹅去氧胆酸治疗后，仅1例患者持续存在25-羟基维生素D缺乏，但4例患者存在不足。根据骨密度评估，4例患者在初次检查时和鹅去氧胆酸治疗后的Z值均低于年龄预期范围。治疗前后血浆25-羟基维生素D水平与骨密度Z值之间未观察到显著差异。
本研究阐明了在鹅去氧胆酸治疗中添加额外药物治疗以改善脑腱黄瘤病患者骨骼系统表现的必要性。
