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一例伴有基因突变的常染色体显性2型骨硬化症病例。

A Case of Autosomal Dominant Osteopetrosis Type 2 with a Gene Mutation.

作者信息

Kang Sol, Kang Young Kyung, Lee Jun Ah, Kim Dong Ho, Lim Jung Sub

机构信息

Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea

出版信息

J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):439-443. doi: 10.4274/jcrpe.galenos.2019.2018.0229. Epub 2019 Feb 14.

DOI:10.4274/jcrpe.galenos.2019.2018.0229
PMID:30759959
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6878338/
Abstract

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the gene. The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient.

摘要

骨质石化症是一种罕见的遗传性疾病，其特征是由于破骨细胞功能缺陷导致骨密度增加和骨折。常染色体显性遗传性骨质石化症2型（ADO-2），即阿尔伯斯-尚伯格病，其特征是骨骼硬化，主要累及脊柱、骨盆和颅底。在此，我们报告一例典型的骨质石化症病例，患者为一名17.7岁男性，其该基因第9外显子存在杂合性c.746C>T突变。患者脊柱显示出包括夹心椎在内的多处硬化改变。其父亲有相同的突变，但骨骼X光片正常。这是韩国首例经基因检测确诊的ADO-2病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2537/6878338/b85e752f8680/JCRPE-11-439-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2537/6878338/f463f41e12dd/JCRPE-11-439-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2537/6878338/b85e752f8680/JCRPE-11-439-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2537/6878338/f463f41e12dd/JCRPE-11-439-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2537/6878338/b85e752f8680/JCRPE-11-439-g2.jpg

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本文引用的文献

1
Autosomal dominant osteopetrosis revisited: lessons from recent studies.常染色体显性遗传性骨硬化症再认识：来自近期研究的启示。
Eur J Endocrinol. 2013 Jul 13;169(2):R39-57. doi: 10.1530/EJE-13-0136. Print 2013 Aug.
2
Bone mineral density according to age, bone age, and pubertal stages in korean children and adolescents.韩国儿童和青少年的骨密度与年龄、骨龄和青春期阶段有关。
J Clin Densitom. 2010 Jan-Mar;13(1):68-76. doi: 10.1016/j.jocd.2009.09.006. Epub 2009 Nov 26.
3
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
骨骼重塑和代谢性骨疾病的遗传学和表观遗传学。
Int J Mol Sci. 2022 Jan 28;23(3):1500. doi: 10.3390/ijms23031500.
两个常染色体显性遗传性骨硬化症（II型）中国家系中CLCN7基因突变的鉴定。
J Bone Miner Metab. 2009;27(4):444-51. doi: 10.1007/s00774-009-0051-0. Epub 2009 Mar 14.
4
Osteopetrosis.骨质石化症
Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5.
5
Genetics, pathogenesis and complications of osteopetrosis.骨质石化症的遗传学、发病机制及并发症
Bone. 2008 Jan;42(1):19-29. doi: 10.1016/j.bone.2007.08.029. Epub 2007 Aug 30.
6
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.常染色体显性遗传性骨硬化症：94例氯离子通道7基因突变患者的临床严重程度及自然病史。
J Clin Endocrinol Metab. 2007 Mar;92(3):771-8. doi: 10.1210/jc.2006-1986. Epub 2006 Dec 12.
7
Nosology and classification of genetic skeletal disorders: 2006 revision.遗传性骨骼疾病的疾病分类学与分类：2006年修订版
Am J Med Genet A. 2007 Jan 1;143A(1):1-18. doi: 10.1002/ajmg.a.31483.
8
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.49例骨质石化症患者的临床、遗传及细胞分析：对诊断和治疗的意义
J Med Genet. 2006 Apr;43(4):315-25. doi: 10.1136/jmg.2005.036673. Epub 2005 Aug 23.
9
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10
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