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中华医学遗传学杂志
四川大学
中华医学遗传学杂志

四川大学

张思仲

双月刊

1003-9406

cjmg@cma.org.cn

028-85501165

610041

四川省成都市人民南路三段17号(四川大学华西校区)

中华医学遗传学杂志/Journal Chinese Journal of Medical GeneticsCSCD北大核心CSTPCD
查看更多>>中华医学会主办，四川大学承办。本刊以报道我国医学遗传学、人类遗传学和相关领域的基础理论、技术方法等最新研究成果；以从事医学遗传学工作的各科临床医生、计划生育工作者、大专院校和科研单位有关人员为主要读者对象。设有述评、论著、技术与方法、综述、调查报告、遗传咨询、临床细胞遗传学、病例报告等栏目。 从1998年以来被美国《医学索引》（IM）、《化学文摘》（CA）、《工程索引》（EI）、ISI数据库的Biological Abstracts及BIOSIS Previews，波兰《哥白尼索引》（IC）,荷兰《医学文摘》（EM）和俄罗斯《文摘杂志》（AJ）等国际著名检索系统收录。
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    遗传学分子检测时代基层妇产科医师出生缺陷防控的现状及思考

    刘希婧刘珊玲王和孙玲玲...
    1447-1450页
    查看更多>>摘要：出生缺陷是严重影响出生人口素质的因素之一。随着分子遗传学技术的发展及临床应用，越来越多导致出生缺陷的遗传病得以检出，出生缺陷的防控全面进入分子时代。基层妇产科医师是出生缺陷的第一道防线，但在分子遗传学基础知识及临床应用方面的短板也日益凸显。现阶段各级政府及主管部门已逐步重视上述问题，开展了面向基层妇产科医师的出生缺陷培训项目，如"产前筛查和产前诊断技术专业人员岗位培训""全国出生缺陷人才培训项目""全国基层产科医师培训项目"等，在一定程度上解决了基层出生缺陷防控的燃眉之急。但诸如基层妇产科医师出生缺陷知识体系建立不健全、人才储备匮乏等问题也暴露明显。本文旨在通过分析遗传学分子检测时代基层妇产科在出生缺陷防控方面的困惑与挑战，探讨全面提高分子检测时代基层医师出生缺陷防控能力的途径。 Birth defects are an important factor for the quality of newborn population. With the development of molecular genetic technology, an increasing number of genetic disorders leading to birth defects can now be detected. The lack of the knowledge for the basics and clinical applications of molecular genetic techniques have emerged as a shortcoming for primary care physicians who have formed the first tier prevention for birth defects. Currently, government has paid more attention to the above problems and formulated more training programs for primary obstetricians and gynecologists, e. g., "Prenatal Screening and Prenatal Diagnosis Post Training Program", "National Birth Defects Training Program", "National Primary Obstetrician Training Program". To some extent, such programs have met the urgent need for birth defect prevention in primary hospitals. But at the same time, some problems have also emerged. For instance, the knowledge for birth defects among primary obstetricians and gynecologists is poor, and there is lack of young personnel. This article has aimed to discuss the strategies to systematically improve the ability for preventing birth defects among primary care physicians by analyzing the obstacles and challenges for primary obstetricians and gynecologists in the era of molecular genetic testing.

    出生缺陷医学遗传学分子检测基层医生妇产科

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    扩展性无创产前检测双胎之一22q11.2缺失综合征假阴性结果的原因分析

    赵干业焦智慧代鹏赵晓燕...
    1451-1454页
    查看更多>>摘要：目的 探讨1例扩展性无创产前检测(NIPT-plus)双胎之一22q11.2缺失综合征(22q11.2 DS)假阴性的原因。 方法 对1例NIPT-plus结果为阴性，后期因超声异常行羊水穿刺的辅助生殖双胎样本，获取胎儿细胞后行核型分析和拷贝数变异测序(CNV-seq)检测。收集并分析孕妇的临床信息及检测数据，探讨假阴性的原因。 结果 NIPT-plus的uniMap reads为11.77 Mb，胎儿游离DNA浓度为3.05%。羊水核型结果显示一胎为46，XY，另一胎儿为46，XX，均正常。CNV-Seq结果显示一胎正常，另一胎为缺失大小为2.58 Mb的22q11.2 DS。 结论 上述假阴性应是由较低的胎儿游离DNA浓度、孕妇较高的BMI、辅助生殖、双胎以及较小的缺失片断等综合因素共同引起。对于NIPT-plus低风险者的后续超声检查不可忽视。 Objective To explore the cause for a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing (NIPT-plus). Methods A pregnant woman with twin pregnancy through in-vitro fertilization and negative result of NIPT-plus was selected as the study subject. Amniocentesis was conducted after ultrasonic finding of fetal abnormalities. In addition to conventional G-banded karyotyping, copy number variation sequencing (CNV-Seq) was used to detect chromosomal microdeletion and microduplication. Clinical data of the woman were analyzed to explore the reasons underlying the false negative result. Results NIPT-plus has yielded a negative result with 11.77 Mb unique reads and 3.05% fetal fraction. Both fetuses had a normal karyotype (46, XY and 46, XX). CNV-seq indicated that one of the fetuses was normal, whilst the other was diagnosed with a 2.58 Mb deletion in the 22q11.2 region. Conclusion The false negative result may be attributed to the combined influence of low fetal fraction, high BMI, twin pregnancy through IVF and a relatively small deletion fragment. Ultrasonography exam following a low-risk result of NIPT-plus should not be neglected.

    扩展性无创产前检测22q11.2缺失综合征假阴性超声

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    13号环状染色体1例的产前遗传学诊断

    孙陆文娟初国铭赖光锐...
    1455-1460页
    查看更多>>摘要：目的 对1例无创产前检测(NIPT)提示的胎儿13号染色体复杂环状结构异常进行细胞及分子遗传学分析。 方法 选择2021年5月11日就诊于中国医科大学附属盛京医院的1例孕妇作为研究对象，抽取其外周血样进行NIPT筛查，对羊水细胞及孕妇夫妇的外周血样进行G显带染色体核型分析。对孕妇外周血样和羊水细胞同时进行基因组拷贝数变异测序(CNV-seq)、染色体微阵列分析(CMA)和荧光原位杂交(FISH)检测。 结果 NIPT检测提示胎儿13号染色体存在单体嵌合或片段缺失。G显带分析提示胎儿与孕妇的染色体核型均为47，XX，der(13)(pter→p11：：q22→q10)，+r(13)(：：p10：：q22→qter：：)，孕妇丈夫核型未见异常，FISH证实了上述结果。CNV-seq和CMA检测胎儿和孕妇均未见明显异常。 结论 本研究胎儿的13号环状染色体遗传自孕妇，但未合并缺失、重复、嵌合体等异常。孕妇本人及胎儿产前超声诊断均未见明显异常。 Objective To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT). Methods A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple. The fetus and the pregnant woman were also subjected to genomic copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) assay. Results NIPT result suggested that the fetus had monomeric mosaicism or fragment deletion on chromosome 13. G banded chromosomal analysis showed that both the fetus and its mother had a karyotype of 47, XX, der(13)(pter→p11: : q22→q10), + r(13)(: : p10: : q22→qter: : ), whilst her husband had a normal karyotype. FISH has verified the above results. No abnormality was detected with CNV-seq and CMA in both the fetus and the pregnant woman. Conclusion The ring chromosome 13 in the fetus has derived from its mother without any deletion, duplication and mosaicism. Both the fetus and the pregnant woman were phenotypically normal.

    13号环状染色体染色体异常基因组拷贝数变异测序染色体微阵列分析无创产前检测

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    2号染色体三体限制性胎盘嵌合体合并单亲二体胎儿1例的研究及文献综述

    刘春强吕嬿蒋宇林戚庆炜...
    1461-1465页
    查看更多>>摘要：目的 对1例2号染色体三体(T2)限制性胎盘嵌合体(CPM)合并胎儿单亲二体(UPD)的妊娠进行遗传学分析，结合其临床特征，探讨T2 CPM的临床意义。 方法 对1例无创产前检测(NIPT)提示胎儿2号染色体高风险的孕妇进行羊水染色体核型分析，同时进行单核苷酸多态性微阵列(SNP array)和家系全外显子组测序(trio-WES)检测。通过超声波检查密切监测胎儿的生长发育情况。产后对胎盘进行多点取样和基因组拷贝数变异测序(CNV-seq)，以明确其遗传学病因。 结果 胎儿染色体核型未见异常，SNP array发现其2号染色体存在多个杂合性缺失片段，trio-WES检测确认为母源性2号染色体UPD。超声提示胎儿宫内发育迟缓，羊水过少，于孕23+4周宫内死亡。引产儿病理学检查未发现器官异常。胎盘经CNV-seq检测确认为完全性T2。 结论 T2 CPM可造成NIPT假阳性，同时可能合并胎儿UPD，出现宫内发育迟缓、羊水过少、胎死宫内等严重的并发症。 Objective To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). Methods Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). Results The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23+ 4 weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. Conclusion T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.

    单亲二体2号染色体三体限制性胎盘嵌合体无创产前检测

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    夫妻双方同时携带染色体平衡易位1例

    李静刘琳琳史策陈扬...
    1465页
    查看更多>>摘要：患者 女，32岁，G1P0A1，因"胚胎停育清宫术后未避孕、未孕3年"就诊，未行流产组织遗传学检测。男方33岁，临床诊断为弱畸精症。夫妻双方及其父母外观及智力均无明显异常，非近亲婚配。否认孕期有毒、有害物质及放射线接触史，否认家族遗传病史。G显带染色体核型分析女方为46，XX，t(5；18)(p15；q11.2)，男方为46，XY，t(1；7)(q21；q22)，男方Y染色体查见AZFc区b2/b3部分缺失合并b3/b4部分重复，范围均约1.8 Mb。患者夫妇选择夫精人工授精2次均未成功，后选择试管助孕。
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    通过新生儿筛查及临床确诊的3-羟基异戊酰肉碱代谢异常相关疾病患者的疾病谱分析

    杨奕邱文娟张惠文梁黎黎...
    1466-1471页
    查看更多>>摘要：目的 探讨我国3-羟基异戊酰肉碱(C5OH)相关疾病的新生儿筛查和临床确诊患者的疾病谱及其相互鉴别的要点，以提高临床医师对这类疾病的认识。 方法 收集2004年2月至2022年1月在上海交通大学医学院附属新华医院的85例新生儿筛查以及临床确诊的C5OH升高的患者的临床资料，对其临床表现、血串联质谱、尿气相色谱质谱检测的特异性指标及基因检测结果进行分析。 结果 在85例患者中，有46例(54.1%)源自新生儿筛查，39例(45.9%)为临床诊断的病例，共诊断出5种疾病，其中多种羧化酶缺乏症28例(32.9%)、3-甲基巴豆酰辅酶A羧化酶缺乏症29例(34.1%)、3-甲基戊烯二酸尿症4例(4.7%)、3-羟基-3-甲基戊二酸尿症7例(8.2%)、β-酮硫解酶缺乏症17例(20.0%)。常见的临床表现包括急性起病、纳差、呕吐、腹泻、呼吸异常、意识障碍、抽搐及发育落后等。 结论 在C5OH相关的疾病中，通过新生儿筛查确诊的患者以3-甲基巴豆酰辅酶A羧化酶缺乏症最为常见，其次为β-酮硫解酶缺乏症、多种羧化酶缺乏症等。临床发病后确诊的患者以多种羧化酶缺乏症最为常见，其次为β-酮硫解酶缺乏症、3-羟基-3-甲基戊二酸尿症等。这类疾病具有较强的异质性，需结合其临床特点与血酰基肉碱、尿有机酸水平及基因检测结果以明确诊断。 Objective To explore the disease spectrum for abnormal 3-hydroxyisovalerylcarnitine (C5OH) metabolism identified through newborn screening and clinical diagnosis patients and the key points for differential diagnosis so as to raise the awareness of pediatricians for such diseases. Methods Clinical data of 85 neonates with abnormal C5OH metabolism identified from February 2004 to January 2022 at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected. Their clinical manifestations and results of tandem mass spectrometry (MS/MS), gas chromatography mass spectrometry (GC-MS) and genetic testing were retrospectively analyzed. Results Among the 85 cases, 46 (54.1%) were identified by neonate screening, whilst 39 (45.9%) were clinically diagnosed patients. Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3-methylcrotonyl-coenzymeAcarboxylasedeficiency (MCCD, 34.1%), 4 cases with 3-methylglutaconic acid (3-MGA, 4.7%), 7 cases with 3-hydroxy-3-methylglutaric acid (3-HMG, 8.2%), and 17 cases with beta-ketothiolase deficiency (BKD, 20.0%). The disorders were characterized by sudden onset, anorexia, vomiting, diarrhea, abnormal breathing, consciousness disorder, spasm and developmental delay. Conclusion Among newborns with abnormal C5OH metabolism, MCCD is the most common disorder, which was followed by BKD and MCD. For patients with abnormal C5OH metabolism, MCD is the most common, followed by BKD and 3-HMG. C5OH related diseases have great heterogeneity. Combination of blood acylcarnitine levels, urinary organic acid levels and genetic testing based on clinical characteristics can help to attain the diagnosis.

    3-羟基异戊酰肉碱新生儿筛查遗传代谢病串联质谱气相色谱质谱

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    90例伴11q23/ KMT2A异常原发急性髓系白血病的特征分析

    李叶王燕琳王峥冯麟...
    1472-1477页
    查看更多>>摘要：目的 探讨伴有11q23/KMT2A异常的原发性急性髓系白血病(AML)的临床及预后特征。 方法 回顾性分析90例伴有11q23/KMT2A异常的原发性AML患者的临床资料。 结果 在90例患者中，累及11q23的易位异常占80例，以t(9；11)(p22；q23)、t(6；11)(q27；q23)、t(10；11)(p12；q23)和t(11；19)(q23；p13)最为常见，非易位异常10例。完全缓解(CR)率为75.6%，携带t(6；11)者的CR率显著低于其他患者(47.1% vs. 82.2%，P＝0.005)。中位随访24.5个月，接受异基因造血干细胞移植(allo-HSCT)的患者的3年总体生存率(80.3% vs. 16.6%，P<0.001)和3年无事件生存率(73.5%vs. 16.3%，P<0.001)均显著优于非移植患者。T(6；11)者生存最差，3年总体生存率(11.8%vs. 56.9%，P<0.001)和3年无事件生存率(5.9%vs. 54.4%，P<0.001)均显著差于其他类型。无论是否接受allo-HSCT，t(9；11)和非t(9；11)患者的生存无统计学差异。 结论 伴11q23/KMT2A重排的原发性AML的临床特性具有异质性，未接受移植的患者预后更差，尤以t(6；11)的预后最差。Allo-HSCT可显著改善这类患者的生存。 Objective To investigate the clinical and prognostic characteristics of primary acute myeloid leukemia (AML) with 11q23/KMT2A rearrangements. Methods Clinical data of 90 patients with primary AML and 11q23/KMT2A rearrangements were analyzed retrospectively. Results By karyotyping analysis, 80 of the 90 patients had translocations involving 11q23/KMT2A, with t(9 11)(p22 q23), t(6 11)(q27 q23), t(10 11)(p12 q23) and t(11 19)(q23 p13) being the most common ones, while 10 cases were found to have non-translocation abnormalities. The overall complete remission (CR) rate was 75.6%, and patients with t(6 11) had lower CR rate compared with non-t(6 11) patients (47.1% vs. 82.2%, P=0.005). After a median follow-up of 24.5 months, the patients receiving allo-hematopoietic stem cell transplantation (allo-HSCT) had significantly higher 3-year overall survival (OS) (80.3% vs. 16.6%, P<0.001) and 3-year event-free survival (EFS) (73.5%vs. 16.3%, P<0.001) compared with non-transplant patients. Patients with t(6 11) had the lowest 3-year OS (11.8%vs. 56.0%, P<0.001) and 3-year EFS (5.9%vs. 53.8%, P<0.001) compared with other type of abnormalities. No significant difference was noted in the survival between patients with t(9 11) and non-t(9 11) regardless whether they had received HSCT. Conclusion The clinical characteristics of primary AML with 11q23/KMT2A rearrangements are heterogeneous. Patients did not receive HSCT had poorer survival, particularly with the presence of t(6 11). Allo-HSCT could significantly improve the survival of such patients.

    急性髓系白血病11q23KMT2A基因预后

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    I型神经纤维瘤患者12例的临床特征及 NF1基因变异分析

    张玉鑫闫露露解敏薛江阳...
    1478-1483页
    查看更多>>摘要：目的 探讨I型神经纤维瘤(NF1)患者NF1基因的变异类型和临床特征。 方法 回顾性分析2019年12月至2022年5月宁波市妇女儿童医院确诊的12例NF1患者的临床资料，对先证者及其家系成员进行高通量测序，并用Sanger测序和染色体微阵列分析对候选变异进行验证。 结果 12例NF1患者就诊年龄为4个月~ 27岁，男女比例为2 : 1。所有患者均存在牛奶咖啡斑，83.3%伴腋窝或腹股沟雀斑，58.3%伴神经纤维瘤，16.7%伴有先天性胫骨假关节。在12例患者中共发现5种NF1基因变异。5例为无义变异，4例为移码变异，1例为错义变异，1例为剪接变异，1例为涉及整个基因的大片段杂合缺失，其中6例为新发变异，2例遗传自亲代，4例未接受亲代验证。c.3379del(p.Thr1127Glnfs*15)和c.6628_6629del(p.Glu2210Thrfs*10)变异查询文献和数据库均未见报道和收录。 结论 NF1患者早期多表现为牛奶咖啡斑，是由NF1基因的变异所致。高通量测序能够高效检测NF1基因的致病性变异，有助于确诊。 Objective To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1). Methods Clinical data of 12 patients diagnosed at Ningbo Women and Children′s Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis. Results The 12 patients had ranged from 4 months to 27 years old, with a male-to-female ratio of 2 : 1. Cafè-au-lait spots were found in all patients. 83.3% of them also had axillary and/or inguinal freckling, 58.3% had neurofibromas, and 16.7% had congenital pseudarthrosis of the tibia. Five types of NF1 gene variants were identified in the patients, including 5 nonsense variants, 4 frameshift variants, 1 missense variant, 1 splice variant, 1 large deletion involving the whole gene. Six patients were found to harbor de novo variants, 2 had inherited the variants from their parents, and 4 were not verified for their parental origin. The c. 3379del (p.Thr1127Glnfs*15) and c. 6628_6629del (p.Glu2210Thrfs*10) variants were unreported in literature and databases. Conclusion Most NF1 patients may present with Cafè-au-lait spots initially and are due to pathogenic variant of the NF1 gene. High-throughput sequencing can efficiently identify such variants among the patients and enable the definite diagnosis.

    I型神经纤维瘤NF1基因牛奶咖啡斑

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    十二指肠闭锁或狭窄3例胎儿的产前诊断及遗传学分析

    陈娜曾文杉高晓阳罗玉琴...
    1484-1488页
    查看更多>>摘要：目的 探讨3例超声提示十二指肠闭锁或狭窄的胎儿的遗传学病因。 方法 选取2021年1月至2022年8月浙江大学医学院附属妇产科医院发现的3例胎儿作为研究对象，收集其临床资料。采集胎儿的羊水、脐带血及其胎儿父母的外周血样进行染色体核型分析及单核苷酸多态性微阵列(SNP array)检测。 结果 3例胎儿超声均提示十二指肠闭锁或狭窄。3例胎儿的核型均未见异常。SNP array检测发现其染色体17q12区均存在1.4 ~ 1.9 Mb的重复，且判定为致病性拷贝数变异。 结论 17q12重复可能是3例胎儿的遗传学病因。胎儿期十二指肠闭锁或狭窄应考虑染色体拷贝数变异的可能性。 Objective To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. Methods Clinical data of three fetuses identified at the Women′s Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis. Results Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs). Conclusion The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.

    十二指肠闭锁或狭窄17q12微重复综合征产前诊断

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    黏多糖贮积症患儿2例造血干细胞移植后远期随访结果分析

    王坚敏陈静罗长缨张惠文...
    1489-1495页
    查看更多>>摘要：目的 报告异基因造血干细胞移植(alloHSCT)治疗黏多糖贮积症(MPS)的长期结果国内罕见报告，探索alloHSCT治疗MPS的远期疗效。 方法 1例MPS VI型重型和1例MPS I型重型患儿均在2006年于上海儿童医学中心进行了alloHSCT。移植时年龄为18月和23月，均采用以白舒菲为基础的清髓性预处理方案。外周血造血干细胞分别来自人类白细胞抗原(HLA)全相合同胞供体(致病基因携带者)和HLA 9/10相合无关供体。患儿随访时间均超过15年。除对患儿移植前后器官功能进行对比外，例1亦与患病哥哥、健康异卵双胎胞兄进行了对比。 结果 移植后均获得完全植入，患儿体内酶活性持续保持稳定，其中例1酶活性与携带者同胞供者相似，略低于正常，例2酶活性正常。两位患儿均能正常就学，成绩良好。与未接受治疗的患病哥哥相比，例1的呼吸功能和听力明显改善，但和健康哥哥相比，骨骼与心脏仍有残留症状需要进行医学干预。身高较未治疗哥哥仅120 cm有所改善，最终达到了140 cm,但与健康胞兄182 cm相比，仍有较明显的落后。例2呼吸、智力有明显改善，心脏随着时间的推移亦逐步趋于稳定和改善，但仍残留有角膜云翳和骨骼症状需要进行手术治疗，终身高149 cm。 结论 成功的alloHSCT能使MPS患者获得持久稳定的酶活性，相较于未移植患者，其健康状况明显改善，生存期得以明显延长。早期诊断早期治疗可获最佳治疗效果。不同器官的远期疗效存在一定的差异。 Objective To explore the long-term efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in patients with mucopolysaccharidosis (MPS), which has rarely been reported in China. Methods A 18-month-old boy and a 23-month-old girl undergoing alloHSCT for MPS VI and MPS IH Shanghai Children’s Medical Center on March 30, 2006 and September 6, 2006 were selected as the study subjects. A busulfan-based myeloablative regimen was used as the conditioning regimen. Peripheral stem cells were respectively collected from a human leucocyte antigen (HLA) matched sibling carrier donor and a HLA 9/10 matched unrelated donor. Both patients were followed up for more than 15 years. The functions of internal organs before and after the transplantation were compared, and child 1 was also compared with his untreated brother and healthy brother. Results Both children have achieved full donor chimerism after the transplantation, and their enzymatic activities have remained stable. The enzymatic activity of the child 1 was slightly lower than normal but similar to that of his carrier donor, whilst that of the child 2 was normal. Both children have attended schools with good academic performance. Compared with his untreated brother, the respiratory function and hearing of child 1 have significantly improved. However, his orthopedic and cardiac disorders have still remained and required medical intervention. For child 2, her obstructive pulmonary disease was resolved and cognitive development was well preserved after the HSCT. Her heart disease has become stabilized and even improved with time, though her corneal clouding and skeletal malformation still required surgery. Conclusion MPS patients can sustain long-term and stable enzymatic activities after successful alloHSCT. Compared with untreated patients, their health can be significantly improved, along with considerably prolonged survival, though the long-term efficacy of HSCT for different organs may vary to a certain extent.

    造血干细胞移植黏多糖贮积症远期疗效

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