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黏多糖贮积症Ⅰ型中的急性髓细胞白血病

Acute myelogenous leukaemia in Hurler's syndrome.

作者信息

Chen K T, McKenna R W, Desnick R J

出版信息

J Med Genet. 1978 Jun;15(3):239-42. doi: 10.1136/jmg.15.3.239.

DOI:10.1136/jmg.15.3.239
PMID:97385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013687/
Abstract

The occurrence of the Hurler syndrome and acute myelogenous leukaemia in a 2 1/2-year-old girl is described. This represents the first published report of the concurrence of these two diseases.

摘要

本文描述了一名2岁半女童同时患有胡勒综合征和急性髓性白血病的病例。这是这两种疾病并发的首次发表报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/21f444ab86d5/jmedgene00298-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/fcfd3b736dc8/jmedgene00298-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/2f901d83ccac/jmedgene00298-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/21f444ab86d5/jmedgene00298-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/fcfd3b736dc8/jmedgene00298-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/2f901d83ccac/jmedgene00298-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7942/1013687/21f444ab86d5/jmedgene00298-0078-a.jpg

相似文献

1
Acute myelogenous leukaemia in Hurler's syndrome.黏多糖贮积症Ⅰ型中的急性髓细胞白血病
J Med Genet. 1978 Jun;15(3):239-42. doi: 10.1136/jmg.15.3.239.
2
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.黏多糖贮积症Ⅰ型患者接受非亲属供者脐血移植。
N Engl J Med. 2004 May 6;350(19):1960-9. doi: 10.1056/NEJMoa032613.
3
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.通过检测白细胞中的α-L-艾杜糖醛酸酶来检测黏多糖贮积症Ⅰ型的携带者状态。
Clin Chim Acta. 1976 Jun 1;69(2):305-10. doi: 10.1016/0009-8981(76)90509-x.
4
Role of rehabilitation in Hurler's syndrome.康复治疗在黏多糖贮积症Ⅰ型中的作用。
J Back Musculoskelet Rehabil. 2017;30(3):635-639. doi: 10.3233/BMR-150317.
5
Hurler's syndromes without alpha-L-iduronidase deficiency.无α-L-艾杜糖醛酸酶缺乏的胡勒氏综合征。
Pediatrics. 1977 Nov;60(5):764-5.
6
Perforation of a congenital umbilical hernia in a patient with Hurler's syndrome.一名患有黏多糖贮积症I型（胡尔勒氏综合征）患者的先天性脐疝穿孔。
J Pediatr Surg. 2004 Sep;39(9):1426-7. doi: 10.1016/j.jpedsurg.2004.05.024.
7
[Bone marrow allograft in Hurler's disease. Clinical and biological results after a 1 year's development].
Ann Pediatr (Paris). 1988 Feb;35(2):117-20.
8
Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation.
Cardiol Young. 2011 Jun;21(3):349-50. doi: 10.1017/S1047951110002015. Epub 2011 Jan 25.
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Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity.借助特征性驼背畸形的识别对黏多糖贮积症Ⅰ型进行早期诊断。
Mil Med. 1998 Oct;163(10):711-4.
10
Airway obstruction in Hurler's syndrome--radiographic features.黏多糖贮积症Ⅰ型中的气道阻塞——影像学特征
Int J Pediatr Otorhinolaryngol. 1991 Jul;22(1):91-6. doi: 10.1016/0165-5876(91)90101-g.

引用本文的文献

1
Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.病例报告：成功治疗一名患有急性淋巴细胞白血病与IVA型黏多糖贮积症极为罕见关联的患者。
Front Pediatr. 2025 Sep 4;13:1644720. doi: 10.3389/fped.2025.1644720. eCollection 2025.

本文引用的文献

1
Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey.蒙古症（唐氏综合征）与白血病的同时发生；一项全国性调查的报告
AMA J Dis Child. 1957 Sep;94(3):289-93. doi: 10.1001/archpedi.1957.04030040075012.
2
Fanconi's anemia. Inherited susceptibility to chromosome breakage in various tissues.范科尼贫血。多种组织中对染色体断裂的遗传性易感性。
Ann Intern Med. 1966 Sep;65(3):496-503. doi: 10.7326/0003-4819-65-3-496.
3
Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth.先天性毛细血管扩张性红斑及生长发育迟缓中的染色体断裂与急性白血病。
Ann Intern Med. 1966 Sep;65(3):487-95. doi: 10.7326/0003-4819-65-3-487.
4
Chromosome abnormalities in constitutional aplastic anemia.先天性再生障碍性贫血中的染色体异常
N Engl J Med. 1966 Jan 6;274(1):8-14. doi: 10.1056/NEJM196601062740102.
5
Urban or rural residence and histologic type distribution in 21,000 childhood leukemia deaths in the United States, 1950-59.
J Natl Cancer Inst. 1966 Sep;37(3):369-79. doi: 10.1093/jnci/37.3.369.
6
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.法布里病：半合子和杂合子的酶学诊断。血浆、血清、尿液和白细胞中的α-半乳糖苷酶活性。
J Lab Clin Med. 1973 Feb;81(2):157-71.
7
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.黏多糖贮积症Ⅰ型（Hurler综合征）和黏多糖贮积症Ⅴ型（Scheie综合征）的缺陷：α-L-艾杜糖醛酸酶缺乏。
Proc Natl Acad Sci U S A. 1972 Aug;69(8):2048-51. doi: 10.1073/pnas.69.8.2048.
8
Relative frequency of the Hurler and Hunter syndromes.
N Engl J Med. 1971 Jan 28;284(4):221-2. doi: 10.1056/NEJM197101282840425.
9
Combined mongolism and leukemia. Report of eight cases with chromosome studies.蒙古症（唐氏综合征）合并白血病。八例病例报告及染色体研究
Am J Dis Child. 1966 Nov;112(5):429-43. doi: 10.1001/archpedi.1966.02090140101009.
10
Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.培养的皮肤成纤维细胞和羊水细胞中的α-L-艾杜糖醛酸酶活性
Arch Biochem Biophys. 1973 Oct;158(2):817-21. doi: 10.1016/0003-9861(73)90577-8.