因ECM1基因中p.C220G突变导致的类脂蛋白沉积症的治疗，该突变是中国患者中的主要等位基因。
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.
作者信息
Zhang Rong, Liu Yang, Xue Yang, Wang Yinan, Wang Xinwen, Shi Songtao, Cai Tao, Wang Qintao
机构信息
State Key Laboratory of Military Stomatology, Department of Periodontology, School of Stomatology, the Fourth Military Medical University, Xi'an 710032, P,R, China.
出版信息
J Transl Med. 2014 Apr 4;12:85. doi: 10.1186/1479-5876-12-85.
BACKGROUND
Lipoid proteinosis (LP) is known to be resulted from mutations of the extracellular matrix protein 1 gene (ECM1). However, no effective or sustained therapeutic methods to alleviate LP symptoms have been reported.
METHODS
Here, we report a 12-year-old boy with LP and recurrent anaphylaxis. The laboratory and histopathological investigations were adopted to confirm the diagnosis, and gene sequencing was performed. We treated this patient with glucocorticoid for three years to relieve the patient's lipid metabolism disorder and symptoms related to LP and anaphylaxis.
RESULTS
The Laboratory and histopathological investigations showed a lipid metabolism disorder and anaphylaxis in the patient. A homozygous missense mutation p.C220G of ECM1 was identified by Sanger sequencing, which is a major allele in Chinese patients with LP. Notably, after three years' treatment, the symptoms such as skin lesions, stiff oral mucosa and hoarse voice in the patient were significantly relieved or recovered.
CONCLUSIONS
Our report may provide a potentially effective therapeutic approach for the first time to other LP patients who are experiencing recurrent anaphylaxis and/or chronic inflammation.
背景
已知类脂蛋白沉积症（LP）由细胞外基质蛋白1基因（ECM1）突变引起。然而，尚未有缓解LP症状的有效或持续治疗方法的报道。
方法
在此，我们报告一名患有LP和复发性过敏反应的12岁男孩。采用实验室和组织病理学检查来确诊，并进行基因测序。我们用糖皮质激素治疗该患者三年，以缓解患者的脂质代谢紊乱以及与LP和过敏反应相关的症状。
结果
实验室和组织病理学检查显示患者存在脂质代谢紊乱和过敏反应。通过桑格测序鉴定出ECM1的纯合错义突变p.C220G，这是中国LP患者中的主要等位基因。值得注意的是，经过三年治疗，患者的皮肤病变、口腔黏膜僵硬和声音嘶哑等症状明显缓解或恢复。
结论
我们的报告可能首次为其他患有复发性过敏反应和/或慢性炎症的LP患者提供一种潜在有效的治疗方法。
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