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一名因新型突变导致高磷血症性家族性肿瘤性钙化症的男孩，局部应用硫代硫酸钠和乙酰唑胺成功治疗深部软组织钙化

The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in .

作者信息

Döneray Hakan, Özden Ayşe, Gürbüz Kadri

机构信息

Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey

Atatürk University, Clinical Research Development and Design Application and Research Center, Erzurum, Turkey

出版信息

J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):239-243. doi: 10.4274/jcrpe.galenos.2021.2020.0269. Epub 2021 Mar 9.

DOI:10.4274/jcrpe.galenos.2021.2020.0269
PMID:33685073
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9176085/
Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder. Topical sodium thiosulfate (STS) and acetazolamide can be a safe and effective treatment for patients who do not respond to conventional therapy for ectopic calcifications. We report the successful treatment of deep soft-tissue calcifications with topical STS and acetazolamide in a boy diagnosed with HFTC due to a novel homozygous mutation of .

摘要

高磷血症性家族性肿瘤性钙化症（HFTC）是一种罕见的常染色体隐性疾病。对于异位钙化常规治疗无反应的患者，外用硫代硫酸钠（STS）和乙酰唑胺可能是一种安全有效的治疗方法。我们报告了一名因新的纯合突变被诊断为HFTC的男孩，外用STS和乙酰唑胺成功治疗深部软组织钙化的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/b0d62755b633/JCRPE-14-239-g4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/37631d26cdfd/JCRPE-14-239-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/74b206e4b12a/JCRPE-14-239-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/1176d20e1441/JCRPE-14-239-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/b0d62755b633/JCRPE-14-239-g4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/37631d26cdfd/JCRPE-14-239-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/74b206e4b12a/JCRPE-14-239-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/1176d20e1441/JCRPE-14-239-g3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d183/9176085/b0d62755b633/JCRPE-14-239-g4.jpg

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Horm Res Paediatr. 2024;97(4):404-415. doi: 10.1159/000534456. Epub 2023 Oct 31.
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Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour.卡那单抗联合磷结合和促磷尿疗法对一名患有大型家族性钙化性肿瘤的儿童有效，可实现缓解。
Bone Rep. 2023 Jun 15;19:101695. doi: 10.1016/j.bonr.2023.101695. eCollection 2023 Dec.
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