摘要
【目的】总结以黄色瘤为首发表现的谷固醇血症(STSL)患儿临床特点,以期为临床早识别、早诊断提供线索。【方法】总结和比较儿童STSL的临床特征及以黄色瘤为首发临床表现的STSL和纯合子FH(HoFH)患儿的胆固醇(Chol)、低密度脂蛋白胆固醇(LDL-c)、平均血小板体积(MPV)水平、贫血比例,探讨其在两病的鉴别诊断的价值。【结果】来自两个三甲医院儿科内分泌专科的10例STSL儿童纳入研究,男女孩各5例。儿童STSL的黄色瘤表现多样。有5例(50%)合并轻度贫血。2例(20%)有血管并发症。Chol和LDL-c水平显著高于父亲和母亲。ABCG5纯合或者复合杂合变异9例,ABCG8复合杂合变异1例。纳入10例黄色瘤为首发表现FH为对照组,均为HoFH,男孩4例,女孩6例。黄色瘤表现与STSL组类似。FH组无贫血患儿,有更高的Chol和LDL-c水平(P分别为0.001、0.003),STSL组有更高的MPV(P=0.006)和贫血比例(P=0.033)。Chol、LDL-c、MPV、贫血诊断STSL的AUC值分别为0.910、0.890、0.869、0.750,均具有较好的鉴别诊断价值。在约登指数最大时,取各个值的诊断界值,当Chol≤15.41mmol/L、LDL-c≤13.22 mmol/L、MPV≥9.05fl、贫血,为诊断STSL最佳界值。【结论】STSL的黄色瘤表现多样,与FH类似,而易误诊。以黄色瘤为首发表现,若患儿Chol≤15.41mmol/L、LDL-c≤13.22 mmol/L、MPV≥9.05 fl、贫血,提示临床诊断为STSL可能性大。
【Objectives】To summarize the clinical characteristics of children with Sitosterolemia(STSL)with xantho⁃mas as the first manifestation and to provide clues for early clinical identification and diagnosis.【Methods】We summarized the clinical characteristics of STSL cases and explored the differences between the STSL and FH groups in cholesterol(Chol),low-density lipoprotein cholesterol(LDL-c),mean platelet volume(MPV),proportion of anemia,and diagnos⁃tic value of STSL.Ten STSL cases were from the pediatric endocrinology department of two tertiary hospitals,including five boys and five girls.Ten cases of homozygous FH with a primary manifestation of xanthomas were included:four boys and six girls.【Results】In the STSL group,five patients(50%)had mild anemia,and two patients(20%)had vascular complications.Serum Chol and LDL-c were significantly higher than the corresponding levels of the parents.There were nine homozygous or compound heterozygous variants of ABCG5 and one compound heterozygous variant of ABCG8.The morphology of the xanthomas in the FH group was similar to that of the STSL group.There was no case of anemia in the FH group.The serum Chol and LDL-c values were significantly higher than those in the STSL group(the P values were 0.001 and 0.003,respectively).The MPV values and the proportion of anemia were significantly higher in the STSL group(the P values were 0.006 and 0.033,respectively).The AUC values of Chol,LDL-c,MPV,and anemia for the diagnosis of ST⁃SL were 0.910,0.890,0.869,and 0.750,respectively,all of which had good diagnostic value.The diagnostic thresholds of each indicator were taken when Youden’s J statistic was at its maximum.The best thresholds for diagnosing STSL were Chol≤15.41 mmol/L,LDL-c≤13.22 mmol/L,MPV≥9.05 fl,or anemia present.【Conclusions】Xanthomas of STSL present with varying morphologies,which are similar to those of FH.The clinical diagnosis of STSL is likely to be made when xan⁃thomas are the first manifestation of a patient with Chol≤15.41 mm
作者
张军
陈秋莉
郭松
李燕虹
李川
郑如江
马华梅
ZHANG Jun;CHEN Qiu-li;GUO Song;LI Yan-hong;LI Chuan;ZHENG Ru-jiang;MA Hua-mei(Department of Pediatrics,The First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China;Department of Pediatrics,The Second Affiliated Hospital of Guangxi University,Nanning 530000,China)
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2022年第2期276-288,共13页
Journal of Sun Yat-Sen University:Medical Sciences
基金
广东省医学科学技术研究基金(A2021105)。
