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家族性高磷血症性肿瘤性钙化症:来自叙利亚的一例罕见病例报告。

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria.

作者信息

Al Abdulrahman Balkis, Eed Hiba, Kurdy Rama, Alwadi Yazan, Alcheikh Salwa

机构信息

Department of Rheumatology Al-AsaadUniversiry Hospital Damascus Syria.

Department of Internal medicine Al-AsaadUniversiry Hospital Damascus Syria.

出版信息

Clin Case Rep. 2024 Sep 1;12(9):e9287. doi: 10.1002/ccr3.9287. eCollection 2024 Sep.

DOI:10.1002/ccr3.9287
PMID:39224443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11366685/
Abstract

KEY CLINICAL MESSAGE

Tumoral calcinosis is a very rare disease mainly caused by a disturbance in phosphate metabolism. It is advisable to contemplate screening more organs such as testes, thyroid, and spleen in patients with TC. This study provides insight into tumoral calcinosis for physicians in the region and encourages future work on the matter.

ABSTRACT

Familial hyperphosphatemic tumoral calcinosis (FHTC) characterized by progressive deposition of calcium phosphate crystals in soft tissues. Tumoral calcinosis (TC) is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable in Syria. We present the first reported case from Syria of a man with TC. This case has findings that were not reported in other cases such as testicular calcification, brain calcification, enlarged thyroid, and splenomegaly. Determining these genes in the case presented wasn't possible and future studies need to overcome this hurdle.

摘要

关键临床信息

肿瘤性钙化是一种非常罕见的疾病,主要由磷酸盐代谢紊乱引起。对于肿瘤性钙化患者,建议对更多器官如睾丸、甲状腺和脾脏进行筛查。本研究为该地区的医生提供了对肿瘤性钙化的见解,并鼓励未来就此开展研究。

摘要

家族性高磷血症性肿瘤性钙化(FHTC)的特征是磷酸钙晶体在软组织中进行性沉积。在叙利亚,肿瘤性钙化(TC)常常被漏诊,因为没有基因检测就无法确诊,而叙利亚无法进行基因检测。我们报告了叙利亚首例肿瘤性钙化男性病例。该病例有一些其他病例未报告的发现,如睾丸钙化、脑钙化、甲状腺肿大和脾肿大。在该病例中确定这些基因是不可能的,未来的研究需要克服这一障碍。

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