PDF(Pubmed)
Abstract：
UNASSIGNED: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data.
UNASSIGNED: To describe bone characteristics in a large CGL1 and 2 case series.
UNASSIGNED: Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry).
UNASSIGNED: Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients.
UNASSIGNED: Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.
UNASSIGNED: To describe bone characteristics in a large CGL1 and 2 case series.
UNASSIGNED: Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry).
UNASSIGNED: Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients.
UNASSIGNED: Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.
摘要：
■先天性全身性脂肪营养不良（CGL）是一种罕见的常染色体隐性疾病，由负责脂肪细胞形成和发育的基因突变引起。描述了骨异常。然而,数据缺乏。
■描述大型CGL1和2例系列中的骨骼特征。
■评估福塔雷萨（CE）参考医院CGL患者骨放射学特征的横断面研究，巴西。患者接受临床和骨矿物质代谢评估，通过DEXA（双能X射线吸收法）评估轴向和四肢骨骼和骨矿物质密度（BMD）的X射线照片。
■包括19名患者，14个是CGL1和5个是CGL2。中位年龄为20岁（8-42岁），58％为女性。BMI中位数和体脂百分比为，分别,21Kg/m²(16-24),和10.5%（7.6-15）。瘦素浓度中位数为1ng/mL（0.1-3.3）。79％和63％的患者存在糖尿病和血脂异常，分别。几乎所有患者的钙和磷酸盐中位数正常（95％）。中位甲状旁腺激素和25-OH-维生素D分别为23pg/mL（7-75）和28ng/mL（18-43）。溶骨性病变,骨硬化和假性骨关节炎，出现在74%，42%和32%的患者，分别。主要在长骨的四肢发现溶解性病变，双侧对称，脊柱幸免。骨硬化存在于轴向和四肢骨骼中。在股骨和肱骨的骨phy中对称地发现了假性骨质疏松。除了骨盆.在13例患者中观察到BMDZ评分大于2.5SD（68.4％）。与成人腰椎和全身的CGL2相比，CGL1的BMD更高。没有发现高骨密度和HOMA-IR之间的关联（p=0.686），DM（p=0.750），骨硬化（p=0.127）或假性骨质疏松（p=0.342），and,在疼痛和骨损伤之间。3例患者出现骨折。
■骨骼表现普遍，异质，在CGL1和CGL2中保持沉默。溶骨性病变是最常见的，其次是骨硬化和假性骨质疏松。在大多数情况下，骨量很大。没有与骨病变相关的疼痛主诉。因此，系统评估CGL的骨表现至关重要.需要研究以更好地了解其发病机理和临床后果。
■描述大型CGL1和2例系列中的骨骼特征。
■评估福塔雷萨（CE）参考医院CGL患者骨放射学特征的横断面研究，巴西。患者接受临床和骨矿物质代谢评估，通过DEXA（双能X射线吸收法）评估轴向和四肢骨骼和骨矿物质密度（BMD）的X射线照片。
■包括19名患者，14个是CGL1和5个是CGL2。中位年龄为20岁（8-42岁），58％为女性。BMI中位数和体脂百分比为，分别,21Kg/m²(16-24),和10.5%（7.6-15）。瘦素浓度中位数为1ng/mL（0.1-3.3）。79％和63％的患者存在糖尿病和血脂异常，分别。几乎所有患者的钙和磷酸盐中位数正常（95％）。中位甲状旁腺激素和25-OH-维生素D分别为23pg/mL（7-75）和28ng/mL（18-43）。溶骨性病变,骨硬化和假性骨关节炎，出现在74%，42%和32%的患者，分别。主要在长骨的四肢发现溶解性病变，双侧对称，脊柱幸免。骨硬化存在于轴向和四肢骨骼中。在股骨和肱骨的骨phy中对称地发现了假性骨质疏松。除了骨盆.在13例患者中观察到BMDZ评分大于2.5SD（68.4％）。与成人腰椎和全身的CGL2相比，CGL1的BMD更高。没有发现高骨密度和HOMA-IR之间的关联（p=0.686），DM（p=0.750），骨硬化（p=0.127）或假性骨质疏松（p=0.342），and,在疼痛和骨损伤之间。3例患者出现骨折。
■骨骼表现普遍，异质，在CGL1和CGL2中保持沉默。溶骨性病变是最常见的，其次是骨硬化和假性骨质疏松。在大多数情况下，骨量很大。没有与骨病变相关的疼痛主诉。因此，系统评估CGL的骨表现至关重要.需要研究以更好地了解其发病机理和临床后果。
