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一名终末期肾病合并继发性甲状旁腺功能亢进患者的萨利克综合征。

Sagliker syndrome in a patient with end-stage renal disease with secondary hyperparathyroidism.

作者信息

Panezai Muhammad Ajmal, Ahmed Sana, Colbert Gates B

机构信息

Department of Internal Medicine, Baylor University Medical Center at DallasDallasTexas.

Division of Nephrology, Department of Internal Medicine, Baylor University Medical Center at DallasDallasTexas.

出版信息

Proc (Bayl Univ Med Cent). 2019 Jul 15;32(4):624-626. doi: 10.1080/08998280.2019.1624092. eCollection 2019 Oct.

DOI:10.1080/08998280.2019.1624092
PMID:31656444
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6793963/
Abstract

Sagliker syndrome (SS), also known as an "uglifying human face syndrome," is one of the severe manifestations of chronic kidney disease in patients with uncontrolled secondary hyperparathyroidism. Patients with SS develop short stature, maxillary and mandibular bone overgrowth, nasal bone and cartilage destruction, widely spaced teeth with anterior positioning, soft tissue tumors in the oral cavity, auditory loss, and neurological and psychological features. SS can possibly be prevented with proper treatment of secondary hyperparathyroidism using disease-modifying medication and surgical therapies. We report a case of SS in a patient in the USA with end-stage renal disease achieving adequate hemodialysis.

摘要

萨利克综合征(SS),也被称为“毁容性人面综合征”,是继发性甲状旁腺功能亢进未得到控制的慢性肾病患者的严重表现之一。患有萨利克综合征的患者会出现身材矮小、上颌和下颌骨过度生长、鼻骨和软骨破坏、牙齿间距宽且向前移位、口腔软组织肿瘤、听力丧失以及神经和心理特征。通过使用改善病情的药物和手术疗法对继发性甲状旁腺功能亢进进行适当治疗,有可能预防萨利克综合征。我们报告了美国一名患有终末期肾病且血液透析充分的患者发生萨利克综合征的病例。

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本文引用的文献

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Sagliker Syndrome in a Patient with Secondary Hyperparathyroidism and Chronic Renal Insufficiency: A Case Report.一名继发性甲状旁腺功能亢进和慢性肾功能不全患者的萨利克综合征:病例报告
Asia Ocean J Nucl Med Biol. 2018 Spring;6(2):167-170. doi: 10.22038/aojnmb.2018.10567.
2
Sagliker syndrome: first four cases in Bulgaria.萨利克综合征:保加利亚的首例4例病例。
G Ital Nefrol. 2016 Jul-Aug;33(4).
3
A rare case describing catastrophic destruction of the whole skeleton caused by severe hyperparathyroidism.一例罕见病例,描述了严重甲状旁腺功能亢进导致的全身骨骼灾难性破坏。
BMJ Case Rep. 2015 Oct 21;2015:bcr2015211796. doi: 10.1136/bcr-2015-211796.
4
Gene mutations in chronic kidney disease patients with secondary hyperparathyroidism and Sagliker syndrome.
J Ren Nutr. 2015 Mar;25(2):176-86. doi: 10.1053/j.jrn.2014.12.008.
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Clinical status of Sagliker syndrome: a case report and literature review.萨格利克综合征的临床状况:一例报告及文献综述
Ren Fail. 2014 Jun;36(5):800-3. doi: 10.3109/0886022X.2014.890110. Epub 2014 Feb 27.
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