Lima Josivan Gomes, Nobrega Lucia Helena C, Lima Natalia Nobrega, Dos Santos Marcel Catão Ferreira, Baracho Maria de Fatima P, Winzenrieth Renaud, Bandeira Francisco, Mendes-Aguiar Carolina de O, Neto Francisco Paulo Freire, Ferreira Leonardo Capistrano, Rosen Clifford J, Jeronimo Selma Maria B
Department of Clinical Medicine, Health Science Center, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil; Health Post-Graduate Program, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
Department of Clinical Medicine, Health Science Center, Hospital Universitário Onofre Lopes (HUOL), Natal, RN, Brazil.
Bone. 2017 Aug;101:21-25. doi: 10.1016/j.bone.2017.03.053. Epub 2017 Apr 6.
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty in storing lipids in adipocytes, low body fat mass, hypoleptinemia, and hyperinsulinemia. Sclerostin is a product of SOST gene that blocks the Wnt/β-catenin pathway, decreasing bone formation and enhancing adipogenesis. There are no data about sclerostin in people with BSCL.
We aimed to evaluate serum sclerostin, bone mineral density (BMD), and L1-L4 Trabecular Bone Score (TBS) in BSCL patients, generating new knowledge about potential mechanisms involved in the bone alterations of these patients.
DESIGN, SETTING, AND PATIENTS: In this cross-sectional study, we included 11 diabetic patients with BSCL (age 24.7±8.1years; 6 females). Sclerostin, leptin, L1-L4 TBS, BMD were measured. Potential pathophysiological mechanisms have been suggested.
Mean serum sclerostin was elevated (44.7±13.4pmol/L) and was higher in men than women (55.3±9.0 vs. 35.1±8.4pmol/L, p=0.004). Median of serum leptin was low [0.9ng/mL (0.5-1.9)]. Seven out of 11 patients had normal BMD, while four patients had high bone mass (defined as Z-score>+2.5SD). Patients on insulin had lower sclerostin (37.3±9.2 vs. 52.6±13.4pmol/L, p=0.05). The mean TBS was 1.402±0.106, and it was higher than 1.300 in nine patients.
Patients with lipoatrophic diabetes (BSCL) have high serum concentrations of sclerostin, normal or high BMD, and reasonable trabecular bone mass measured by TBS. This is the first report of high sclerostin and good bone microarchitecture (TBS) in BSCL patients.
贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL）是一种罕见的常染色体隐性综合征，其特征为脂肪细胞储存脂质困难、低体脂量、低瘦素血症和高胰岛素血症。硬化蛋白是SOST基因的产物，它阻断Wnt/β-连环蛋白信号通路，减少骨形成并增强脂肪生成。目前尚无关于BSCL患者硬化蛋白的相关数据。
我们旨在评估BSCL患者的血清硬化蛋白、骨密度（BMD）和L1-L4小梁骨评分（TBS），以获取有关这些患者骨骼改变潜在机制的新知识。
设计、研究地点和患者：在这项横断面研究中，我们纳入了11例患有BSCL的糖尿病患者（年龄24.7±8.1岁；6名女性）。测定了硬化蛋白、瘦素、L1-L4 TBS和BMD，并提出了潜在的病理生理机制。
血清硬化蛋白平均水平升高（44.7±13.4pmol/L），男性高于女性（55.3±9.0对35.1±8.4pmol/L，p = 0.004）。血清瘦素中位数较低[0.9ng/mL（0.5 - 1.9）]。11例患者中有7例BMD正常，4例患者骨量高（定义为Z评分> +2.5SD）。使用胰岛素的患者硬化蛋白水平较低（37.3±9.2对52.6±13.4pmol/L，p = 0.05）。平均TBS为1.402±0.106，9例患者高于1.300。
脂肪萎缩性糖尿病（BSCL）患者血清硬化蛋白浓度高，BMD正常或高，且通过TBS测量的小梁骨量合理。这是关于BSCL患者硬化蛋白水平高和良好骨微结构（TBS）的首次报告。
