非典型钻石-黑范贫血的谱系：一例与新的RPL5突变相关的迟发性输血依赖病例。
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation.
作者信息
Farruggia Piero, Quarello Paola, Garelli Emanuela, Paolicchi Olivia, Ruffo Giovanni Battista, Cuccia Liana, Cannella Sonia, Bruno Giuseppa, D'Angelo Paolo
机构信息
Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo;
出版信息
Pediatr Rep. 2012 Apr 2;4(2):e25. doi: 10.4081/pr.2012.e25. Epub 2012 Apr 26.
Abstract
Diamond Blackfan anemia typically presents in infants and is often associated with many kinds of malformations. Severity of anemia often needs transfusional support in the first months of life. We describe here a patient with Diamond Blackfan anemia related to a RPL5 mutation. The patient had no physical abnormalities and experienced a very late onset of transfusion dependency.
摘要
先天性纯红细胞再生障碍性贫血通常在婴儿期出现，且常与多种畸形相关。贫血的严重程度在生命的最初几个月往往需要输血支持。我们在此描述一名与RPL5突变相关的先天性纯红细胞再生障碍性贫血患者。该患者无身体异常，且输血依赖出现得非常晚。
相似文献
1
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation.非典型钻石-黑范贫血的谱系：一例与新的RPL5突变相关的迟发性输血依赖病例。
Pediatr Rep. 2012 Apr 2;4(2):e25. doi: 10.4081/pr.2012.e25. Epub 2012 Apr 26.
2
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.全外显子组测序在先天性纯红细胞再生障碍性贫血鉴别诊断中的应用：3例携带新型RPL5和嵌合型RPS19突变患者的临床及分子研究
Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6.
3
Diamond-Blackfan anemia RPL35A: a case report.钻石黑范贫血RPL35A：一例报告
J Med Case Rep. 2019 Jun 18;13(1):185. doi: 10.1186/s13256-019-2127-3.
4
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.捷克钻石-黑范贫血患者核糖体蛋白L5（RPL5）和核糖体蛋白L11（RPL11）基因突变的鉴定
Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874.
5
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.希腊钻石黑范贫血患者中RPS19、RPL5和RPL11基因的临床表型及遗传分析
Pediatr Blood Cancer. 2014 Dec;61(12):2249-55. doi: 10.1002/pbc.25183. Epub 2014 Aug 17.
6
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.先天性纯红细胞再生障碍性贫血：一例经基因组分析辅助诊断的非典型患者。
J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587.
7
Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia.用于研究先天性纯红细胞再生障碍性贫血的Rpl5诱导型小鼠模型。
Discoveries (Craiova). 2019 Sep 30;7(3):e96. doi: 10.15190/d.2019.9.
8
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing .由1p22染色体缺失导致的先天性纯红细胞再生障碍性贫血，缺失区域包括…… （原文此处不完整）
Hum Genome Var. 2019 Aug 8;6:36. doi: 10.1038/s41439-019-0067-5. eCollection 2019.
9
Molecular pathogenesis in Diamond-Blackfan anemia. Diamond-Blackfan 贫血的分子发病机制。
Int J Hematol. 2010 Oct;92(3):413-8. doi: 10.1007/s12185-010-0693-7. Epub 2010 Sep 30.
10
Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia.一名患有依赖输血的先天性纯红细胞再生障碍性贫血的儿童发生骨肉瘤。
J Pediatr Hematol Oncol. 1996 May;18(2):230-2. doi: 10.1097/00043426-199605000-00030.
引用本文的文献
1
A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.一个 RPL5 基因移码突变的新病例报告，伴有经典表型异常和贫血加重，该患者为青年成人——病例报告及文献复习。
Medicina (Kaunas). 2023 Nov 5;59(11):1953. doi: 10.3390/medicina59111953.
2
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.全外显子组测序在先天性纯红细胞再生障碍性贫血鉴别诊断中的应用：3例携带新型RPL5和嵌合型RPS19突变患者的临床及分子研究
Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6.
3
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.先天性纯红细胞再生障碍性贫血：一例经基因组分析辅助诊断的非典型患者。
J Pediatr Hematol Oncol. 2016 Oct;38(7):e260-2. doi: 10.1097/MPH.0000000000000587.
4
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.成人期发病的戴蒙德-布莱克范贫血伴核糖体蛋白L11第5外显子新突变：为时已晚且极为罕见。
Clin Case Rep. 2015 Jun;3(6):392-5. doi: 10.1002/ccr3.240. Epub 2015 Apr 9.
本文引用的文献
1
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.解开 Diamond Blackfan 贫血的表型异质性。
Semin Hematol. 2011 Apr;48(2):124-35. doi: 10.1053/j.seminhematol.2011.02.003.
2
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Diamond-Blackfan 贫血的核糖体基础：突变和数据库更新。
Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383.
3
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.日本 Diamond-Blackfan 贫血患者核糖体蛋白基因的突变。
Haematologica. 2010 Aug;95(8):1293-9. doi: 10.3324/haematol.2009.020826. Epub 2010 Apr 7.
4
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. Diamond-Blackfan 贫血：RPL5 和 RPL11 突变的意大利患者的基因型-表型相关性。
Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.
5
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.捷克钻石-黑范贫血患者核糖体蛋白L5（RPL5）和核糖体蛋白L11（RPL11）基因突变的鉴定
Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874.
6
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.核糖体蛋白L5和L11突变与钻石黑范贫血患者的腭裂和拇指异常有关。
Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
7
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.诊断与治疗先天性纯红细胞再生障碍性贫血：国际临床共识会议结果
Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.
8
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia.钻石黑范贫血登记处：用于研究钻石黑范贫血流行病学和生物学的工具。
J Pediatr Hematol Oncol. 2001 Aug-Sep;23(6):377-82. doi: 10.1097/00043426-200108000-00015.
9
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.先天性再生障碍性贫血中红细胞腺苷脱氨酶活性升高。
N Engl J Med. 1983 Dec 15;309(24):1486-90. doi: 10.1056/NEJM198312153092404.
10
Diamond-Blackfan syndrome in adult patients.成年患者的先天性纯红细胞再生障碍性贫血
Am J Med. 1985 Mar;78(3):533-8. doi: 10.1016/0002-9343(85)90352-3.
Zotero 插件