Abstract
BackgroundChildren 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.MethodsFifty-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.ResultsHeight-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.ConclusionsMetabolic 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.
Highlights
Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations
Height-Standard Deviation Score (SDS) adjusted for target height (TH) was significantly and negatively correlated with clinical severity parameters such as number of hospital admissions/2016 (Spearman R = − 0.31 p = 0.040), average number of days of hospital admissions/ 2016 (Spearman R = − 0.31, p = 0.041), and average number of Acute Chest Syndrome (ACS) (Spearman R = − 0.40, p = 0.008)
Anthropometric parameters Subjects with HbSC genotype compared to HbSS ones showed significantly higher values of both height-SDS adjusted for TH (1.0 ± 0.6 vs. 0.3 ± 0.9 SDS, respectively; p = 0.027) and body mass index (BMI)-SDS (0.9 ± 1.1 vs. -0.7 ± 1.4 SDS, respectively; p = 0.004) despite chronological age was not
Summary
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. Sickle cell disease (SCD) is an inherited disease due to a single-point mutation on the β-globin subunit of hemoglobin (Hb) determining polymerization of the mutant HbS and resulting in sickling of erythrocytes. It is characterized by a high clinical variability because of inflammation, hemolysis, and micro-vascular obstruction leading to unpredictable acute complications and chronic organ damage [1, 2]. The reduction of mortality has led to an increase of long-term complications, including metabolic and endocrine ones
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
