Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.
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DOI：
10.1186/1546-0096-10-18
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发表时间：
2012-06-22
期刊：
影响因子：
--
通讯作者：
Brik R
中科院分区：
文献类型：
--
作者：
Butbul Aviel Y;Mandel H;Avitan Hersh E;Bergman R;Adiv OE;Luder A;Brik R
脯氨酰二肽酶缺乏症（PD）是一种罕见的常染色体隐性遗传疾病，可能有广泛的临床特征。这些特征包括特征性面容、认知障碍、皮疹或皮肤溃疡、脾肿大、主要涉及呼吸系统的复发性感染和亚氨基二肽尿症。这种疾病是由PEPD基因突变引起的。描述来自以色列北方的一组与系统性红斑狼疮（SLE）相关的先天性代谢缺陷的无关PD患者，并在医学文献中确定所有与SLE相似和/或相关的PD病例。对3例SLE合并PD患者进行了临床、生化和遗传学研究。这些患者来自居住在以色列北方的3个无血缘关系的家庭。使用以下关键词对1975年至2011年的医学文献进行计算机辅助（PubMed）检索：氨脯氨酸二肽酶缺乏症、SLE和系统性红斑狼疮。在10例PD患者中发现PD与SLE相关。这10例患者包括来自我们的23例PD患者队列的3例，以及文献中先前报告的不到70例PD患者中的7例。目前的研究结果强调了SLE和PD之间的关联的相对高的发生率，这表明这种关联可能不是巧合。SLE与PD的表型相似性提示PEPD基因可能是SLE发病的修饰基因或遗传危险因子。
Prolidase deficiency (PD) is a rare autosomal recessive disorder which may have a wide spectrum of clinical features. These features include a characteristic facies, cognitive impairment, rashes or skin ulceration, splenomegaly, recurrent infections involving mainly the respiratory system, and iminodipeptiduria. The disorder is caused by a mutation in the PEPD gene. To describe a cohort of unrelated PD patients from Northern Israel whose inborn error of metabolism was associated with systemic lupus erythematosus (SLE) and to identify in the medical literature all PD cases mimicked by and/or associated with SLE. Three patients with PD associated with SLE were clinically, biochemically and genetically investigated. These patients were from 3 unrelated consanguineous families residing in Northern Israel. A computer-assisted (PubMed) search of the medical literature from 1975 to 2011 was performed using the following key words: Prolidase deficiency, SLE, and systemic lupus erythematosus. An association between PD and SLE was found in 10 PD patients. These 10 patients included three from our cohort of 23 PD patients, and seven out of just under 70 PD patients previously reported in the literature. The present findings underscore the relatively high incidence of the association between SLE and PD, suggesting that this association may not be coincidental. The phenotypic similarities between SLE and PD might suggest that the PEPD gene constitutes a modifier gene or a genetic risk factor in the causation of SLE.
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影响因子：
3.5
作者：
Lupi, A.;Tenni, R.;Forlino, A.
通讯作者：
Forlino, A.
DOI：
10.1002/ajmg.b.30945
发表时间：
2010-01-01
影响因子：
2.8
作者：
Falik-Zaccai, Tzipora C.;Khayat, Morad;Mandel, Hanna
通讯作者：
Mandel, Hanna
影响因子：
5.3
作者：
Forlino, A;Lupi, A;Cetta, G
通讯作者：
Cetta, G
影响因子：
3.6
作者：
Klar, Aharon;Navon-Elkan, Paulina;Falik-Zaccai, Tzipora C.
通讯作者：
Falik-Zaccai, Tzipora C.
DOI：
10.1007/bf00710562
发表时间：
1985-01-01
期刊：
VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY
影响因子：
--
作者：
SEKIYA, M;OHNISHI, Y;KIMURA, K
通讯作者：
KIMURA, K