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非家族性高磷血症性肿瘤性钙化伴尺神经病变

Nonfamilial hyperphosphatemic tumoral calcinosis with ulnar neuropathy.

作者信息

Shetty Gautam M, Murari Ashok Shyam, Shah Shrenik V, Dhengle Sushil

机构信息

Department of Orthopaedic Surgery, B.Y.L Nair Hospital, A.L Nair Road, Mumbai Central, Mumbai 400008, India.

出版信息

Joint Bone Spine. 2009 Mar;76(2):198-201. doi: 10.1016/j.jbspin.2008.06.014. Epub 2008 Dec 14.

DOI:10.1016/j.jbspin.2008.06.014
PMID:19073370
Abstract

We present a case of multiple large juxta-articular painless masses involving both the elbows and right hip in a 27-year old south Asian male who presented with ulnar neuropathy and constitutional symptoms. Radiology, blood investigations and biopsy confirmed it to be hyperphosphatemic tumoral calcinosis. Patient was also diagnosed with an extremely rare association, testicular microlithiasis. Complete surgical excision with low phosphate diet resulted in complete neurological recovery and no recurrence at 30 months. Tumoral calcinosis should be considered in the differential diagnosis of a case with multiple, symptomatic juxta-articular masses.

摘要

我们报告一例27岁南亚男性病例,其双肘和右髋出现多个大的关节旁无痛性肿块,并伴有尺神经病变和全身症状。影像学检查、血液检查及活检确诊为高磷血症性肿瘤性钙化。患者还被诊断出患有极为罕见的合并症——睾丸微石症。通过完全手术切除并采用低磷饮食,患者神经功能完全恢复,30个月时未复发。对于出现多个有症状的关节旁肿块的病例,鉴别诊断时应考虑肿瘤性钙化。

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Clinical Characteristics, Therapeutic Options, and Outcomes in Hyperphosphatemic Tumoral Calcinosis: A Systematic Review.高磷血症肿瘤性钙化的临床特征、治疗选择和结局:系统评价。
Calcif Tissue Int. 2024 Sep;115(3):215-228. doi: 10.1007/s00223-024-01247-8. Epub 2024 Jul 1.
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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.新型 GALNT3 突变引起的家族性肿瘤性钙化症的临床变异性。
Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337.