目的:心血管疾病在镰状细胞病(SCD)中普遍存在。进行了有针对性的文献综述,以比较SCD(SCDV)与普通人群中某些血管病变的总体流行病学。由于许多SCDV可能起源于童年,该研究还集中于Harbor-UCLA医学中心儿科队列中SCDV的回顾性调查.
方法:SCDV按患者年龄进行研究,β-珠蛋白基因型,和胎儿血红蛋白(HbF)。尿微量白蛋白/肌酐比值(UM/Cr),还分析了经颅多普勒(TCD)和三尖瓣反流喷射速度(TRJV)。描述性呈现视网膜病变和明显的血管病变。
结果:在20名女性和20名男性[平均8.3岁(2.3-19岁)]中,70%有HbSS/Sβ0,22.5%HbSC和7.5%-HbSβ+。平均(±SD)HbF%为17.4±12.7%(<10时高于30%≥10y/o,SS/Sβ0高3倍)。26例患者接受了羟基脲和13/26,L-谷氨酰胺。36例患者在1.4±0.9年内有TCD,所有实验室值都是在过去12个月内获得的。TCD显示低正常速度,但2的HbSS/Sβ0高于HbSC/Sβ+(MCA-96与86厘米/秒,p=0.03;PCA-50与41,p<0.001)。28例超声心动图患者中,有19例具有可测量的TRJV(2.46±0.19m/s);9例具有TRJV≥2.5-2.8m/s,但BNP≤80pg/ml。SS/Sβ0与较高的UM/Cr相关。有2例无症状梗塞,1-Moyamoya,2-持续性大量白蛋白尿,1-血尿/肾乳头状坏死。大多数≥9岁的患者有视网膜造影,无SCD相关变化。TCD(MCA)之间无相关性,TRJV,和UM/Cr(n=17);因此,在这个亚群中,大脑的病理,心肺,和肾脏血管独立进化。具有较高TRJV和/或明显血管病变的患者(n=14)比没有(12.5±4.7vs.6.1±3.1y/o,p<0.001),HbF较低(11.4±7.6vs.20.6±13.8%,p=0.026)。
结论:虽然公开的SCDV在儿童中的频率较低,年龄依赖性趋势/替代标记表明它们早期起源于青年,通过改善疾病的措施来证明密集的筛查是合理的,以防止其进展。
OBJECTIVE: Cardiovascular pathologies are ubiquitous in sickle cell disease (SCD). A targeted literature review was conducted to compare the overall epidemiology of selected vasculopathies seen in SCD (SCDVs) compared to the general population. Since many SCDV may originate in childhood, the study also focused on the retrospective investigation of SCDVs in a pediatric cohort at the Harbor-UCLA Medical Center.
METHODS: SCDVs were studied along patient age, β-globin genotypes, and fetal hemoglobin (HbF). Urine microalbumin/creatinine ratios (UM/Cr), trans-cranial doppler (TCD) and tricuspid regurgitant jet velocities (TRJV) were analyzed as well. Retinographies and overt vasculopathies were presented descriptively.
RESULTS: Among 20 females and 20 males [average 8.3 years (2.3-19 years)], 70% had HbSS/Sβ0, 22.5% HbSC and 7.5%-HbSβ+. The mean(±SD) HbF% was 17.4±12.7% (30% higher in <10 vs. ≥10 y/o, and 3 times higher in SS/Sβ0). Twenty-six patients received hydroxyurea and 13/26, L-glutamine. Thirty-six patients had TCDs within 1.4±0.9 years and all laboratory values were obtained within the last 12 months. TCDs showed low-normal velocities, but 2 were higher for HbSS/Sβ0 vs. HbSC/Sβ+ (MCA-96 vs. 86 cm/s, p=0.03; and PCA-50 vs. 41, p<0.001). Nineteen of 28 patients with echocardiograms had measurable TRJV (2.46±0.19 m/s); 9 had TRJV ≥2.5-2.8 m/s, but BNP ≤80 pg/ml. SS/Sβ0 was associated with higher UM/Cr. There were 2 cases with silent infarcts, 1-Moyamoya, 2-persistent macroalbuminuria, and 1-hematuria/renal papillary necrosis. Most ≥9 y/o patients had retinographies without SCD-related changes. There was no correlation among TCD (MCA), TRJV, and UM/Cr (n=17); thus, in this subpopulation, pathologies of cerebral, cardiopulmonary, and renal vasculatures evolved independently. Patients with higher TRJV and/or overt vasculopathy (n=14) were older than ones without (12.5±4.7 vs. 6.1±3.1 y/o, p<0.001), and had lower HbF (11.4±7.6 vs. 20.6±13.8%, p=0.026).
CONCLUSIONS: While overt SCDVs are less frequent in children, age-dependent trends/surrogate markers suggest their early origination in youth, justifying intense screening to prevent their progression with disease-modifying measures.