Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Oncology and Hematology Pediatric Unit Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, 41124, Modena, Italy.
BMC Pediatr. 2019 Feb 11;19(1):56. doi: 10.1186/s12887-019-1423-9.
Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern, endocrine complications, and metabolic alterations and to detect the relationship between these conditions and the SCD severity in affected children and adolescents.
Fifty-two children and adolescents with SCD [38 homozygous sickle hemoglobin (HbSS) and 14 heterozygous sickle hemoglobin (HbSC); age range 3-18 years] were recruited. Anthropometric [height, body mass index (BMI), arm span, sitting height, target height (TH), and pubertal status] and laboratory [blood cell counts, hemolysis indices, metabolic and nutritional status indices and hormonal blood levels] data were evaluated. The SCD severity was defined according to hematological and clinical parameters.
Height-SDS adjusted for TH and BMI-SDS were significantly higher in HbSC children than in HbSS ones. Forty-eight out of 52 patients (92%) had at least one metabolic and/or endocrine alteration: insufficiency/deficiency of vitamin D (84.7%), insulin resistance (11.5%), growth hormone deficiency (3.8%), subclinical hypothyroidism (3.8%), and hypogonadism (1.9%). Levels of vitamin D were significantly and negatively correlated with clinical indicators of the SCD severity. Subjects with HbSS genotype show significant lower levels of both insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 than children with HbSC. In the study population IGF-1 values were significantly and positively correlated with Hb and negatively with lactate dehydrogenase.
Metabolic alterations and endocrine complications are very common in children and adolescents with SCD. A regular follow-up is necessary to identify subjects at risk for complications to precociously start an appropriate treatment and to improve the quality of life of SCD patients.
患有镰状细胞病（SCD）的儿童会出现内分泌并发症和代谢改变。这些情况的病理生理学尚不完全清楚：慢性输血导致的铁过载、缺血性损伤以及与血管阻塞性危象相关的炎症状态可能与此有关。本研究旨在评估生长模式、内分泌并发症和代谢改变，并检测这些情况与受影响儿童和青少年 SCD 严重程度之间的关系。
招募了 52 名患有 SCD 的儿童和青少年[38 名纯合镰状血红蛋白（HbSS）和 14 名杂合镰状血红蛋白（HbSC）；年龄范围 3-18 岁]。评估了人体测量学[身高、体重指数（BMI）、臂展、坐高、目标身高（TH）和青春期状态]和实验室[血细胞计数、溶血指标、代谢和营养状况指标以及激素血液水平]数据。SCD 严重程度根据血液学和临床参数定义。
TH 调整后的身高-SDS 和 BMI-SDS 在 HbSC 儿童中均显著高于 HbSS 儿童。52 名患者中有 48 名（92%）至少存在一种代谢和/或内分泌改变：维生素 D 不足/缺乏（84.7%）、胰岛素抵抗（11.5%）、生长激素缺乏（3.8%）、亚临床甲状腺功能减退症（3.8%）和性腺功能减退症（1.9%）。维生素 D 水平与 SCD 严重程度的临床指标显著负相关。HbSS 基因型的受试者胰岛素样生长因子-1（IGF-1）和胰岛素样生长因子结合蛋白 3 的水平明显低于 HbSC 儿童。在研究人群中，IGF-1 值与 Hb 呈显著正相关，与乳酸脱氢酶呈显著负相关。
代谢改变和内分泌并发症在患有 SCD 的儿童和青少年中非常常见。需要定期随访以识别有并发症风险的患者，以便及早开始适当的治疗，并提高 SCD 患者的生活质量。
