Department of Pediatric Nephrology, Izmir Tepecik Training and Research Hospital, Izmir, Turkey.
J Ren Nutr. 2013 Jul;23(4):326-30. doi: 10.1053/j.jrn.2012.07.002. Epub 2012 Sep 29.
Renal osteodystrophy (ROD) is a multifactorial disorder of bone metabolism in chronic kidney disease (CKD). As CKD progresses, ensuing abnormalities in vitamin D metabolism and parathyroid hormone (PTH) secretion result in distortions in trabecular microarchitecture, thinning of the cortical shell, and increased cortical porosity. The recently described Sagliker syndrome (SS) might be an exaggerated version of ROD and is a very striking and prominent feature of secondary hyperparathyroidism in patients with end-stage renal disease (ESRD). It includes a distorted facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissue tumors in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurologic and psychological problems. We herein describe an affected 14-year-old girl with severe ROD resulting from ESRD, who had severe peripheral and central neurologic problems caused by bone deformities, mimicking the features of Sagliker syndrome.
肾性骨营养不良（ROD）是慢性肾脏病（CKD）中骨骼代谢的一种多因素疾病。随着 CKD 的进展，维生素 D 代谢和甲状旁腺激素（PTH）分泌的异常会导致骨小梁微结构扭曲、皮质变薄和皮质孔隙度增加。最近描述的 Sagliker 综合征（SS）可能是 ROD 的一种夸张表现，是终末期肾病（ESRD）患者继发性甲状旁腺功能亢进的一个非常显著和突出的特征。它包括面部畸形、身材矮小、上颌和下颌严重变化、口腔软组织肿瘤、牙齿/牙齿异常、指尖变化、膝和肩胛骨畸形、听力异常以及神经和心理问题。我们在此描述了一名受影响的 14 岁女孩，她患有 ESRD 导致的严重 ROD，由于骨骼畸形导致严重的周围和中枢神经系统问题，类似于 Sagliker 综合征的特征。
