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两名中国患者的家族性肿瘤性钙化:病例系列

Familial tumoral calcinosis in two Chinese patients: a case series.

作者信息

Zhang Che, Gu Jiaowei, Cheng Xiaoli, Xiong Kui

机构信息

Taihe Hospital affiliated to Hubei Medical University, No, 32 South People's Road, Shiyan, Hubei Province, 442000, P,R,China.

出版信息

J Med Case Rep. 2011 Aug 19;5:394. doi: 10.1186/1752-1947-5-394.

DOI:10.1186/1752-1947-5-394
PMID:21854601
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3174129/
Abstract

INTRODUCTION

Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints.

CASE PRESENTATION

Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis.

CONCLUSION

This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.

摘要

引言

肿瘤性钙化是一种罕见的良性疾病,其特征是磷酸钙在大关节周围大量沉积于皮下软组织。

病例报告

一个汉族家庭的两名成员,即儿子和女儿,患有家族性肿瘤性钙化。14岁的儿子6岁时首次在右脚足底接受手术,随后分别在右脚足底和左髋部的病变处接受了后续手术。16岁的女儿6岁时首次在左臀区域接受手术,由于同一病变复发而进行了后续手术。两名患者手术标本的病理诊断均报告为肿瘤性钙化。实验室结果显示血磷升高,血清钙和碱性磷酸酶水平正常。两名患者均仅接受了手术治疗,预后良好。

结论

这是中国家族性肿瘤性钙化的首例报告。对其病因和治疗进行了讨论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/580b2dea5ab2/1752-1947-5-394-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/ca3b3e194c5b/1752-1947-5-394-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/de8aa3174313/1752-1947-5-394-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/580b2dea5ab2/1752-1947-5-394-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/ca3b3e194c5b/1752-1947-5-394-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/de8aa3174313/1752-1947-5-394-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/393f/3174129/580b2dea5ab2/1752-1947-5-394-3.jpg

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本文引用的文献

1
Familial tumoral calcinosis.家族性肿瘤性钙化症。
Am J Orthop (Belle Mead NJ). 2010 Oct;39(10):E111-3.
2
Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification.家族性肿瘤性钙化:从罕见表型的特征到异位钙化的发病机制。
J Invest Dermatol. 2010 Mar;130(3):652-60. doi: 10.1038/jid.2009.337. Epub 2009 Oct 29.
3
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
一种新型突变导致家族性高磷血症性肿瘤性钙化症,并对蛋白 O-糖基化产生有害影响。
Front Endocrinol (Lausanne). 2022 Sep 23;13:1008800. doi: 10.3389/fendo.2022.1008800. eCollection 2022.
家族性肿瘤性钙质沉着症和骨肥厚性高磷酸血症综合征是同一种疾病的不同表现:GALNT3 中的新错义突变。
Skeletal Radiol. 2010 Jan;39(1):63-8. doi: 10.1007/s00256-009-0808-5. Epub 2009 Oct 15.
4
Familial tumoral calcinosis: a forty-year follow-up on one family.家族性肿瘤性钙化症:对一个家族的40年随访
J Bone Joint Surg Am. 2009 Mar 1;91(3):664-71. doi: 10.2106/JBJS.G.01512.
5
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.家族性肿瘤性钙化症及O-糖基化在维持磷酸盐稳态中的作用。
Biochim Biophys Acta. 2009 Sep;1792(9):847-52. doi: 10.1016/j.bbadis.2008.10.008. Epub 2008 Oct 25.
6
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.SAMD9基因中的有害突变会导致正常磷血症性家族性肿瘤性钙化症。
Am J Hum Genet. 2006 Oct;79(4):759-64. doi: 10.1086/508069. Epub 2006 Aug 24.
7
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.欧洲一个家族中由GALNT3基因突变引起的高磷血症性家族性肿瘤性钙化症。
J Hum Genet. 2006;51(5):487-490. doi: 10.1007/s10038-006-0377-6. Epub 2006 Mar 10.
8
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.一种成纤维细胞生长因子23(FGF23)错义突变导致伴有高磷血症的家族性肿瘤性钙化。
Hum Mol Genet. 2005 Feb 1;14(3):385-90. doi: 10.1093/hmg/ddi034. Epub 2004 Dec 8.