胆固醇酯贮积病中的严重慢性腹泻和体重减轻：一例报告
Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.
作者信息
Drebber Uta, Andersen Matthias, Kasper Hans U, Lohse Peter, Stolte Manfred, Dienes Hans P
机构信息
Institute of Pathology, University of Cologne, Joseph-Stelzmann-Strasse 9, D-59031 Cologne, Germany.
出版信息
World J Gastroenterol. 2005 Apr 21;11(15):2364-6. doi: 10.3748/wjg.v11.i15.2364.
Abstract
AIM
An inherited deficiency of human lysosomal acid lipase (LAL) results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult.
METHODS
We report about an adult female patient with severe chronic diarrhea and weight loss as a consequence of CESD. Clinical examination revealed signs of malabsorption and slightly elevated liver enzymes.
RESULTS
Histopathologic changes in the liver tissue and DNA sequence analysis confirmed the diagnosis of CESD due to homozygosity for the most common CESD mutation, a G934A splice site defect encoded by exon 8 of the lysosomal acid lipase (LIPA) gene.
CONCLUSION
It is the first case in the literature with diarrhea as a putative symptom of CESD in adult patients.
摘要
目的
人类溶酶体酸性脂肪酶（LAL）的遗传性缺乏会导致罕见的沃尔曼病和胆固醇酯贮积病（CESD）。我们想要呈现一例成年患者患CESD的罕见病例。
方法
我们报告了一名成年女性患者，因CESD出现严重慢性腹泻和体重减轻。临床检查发现吸收不良体征及肝酶轻度升高。
结果
肝组织的组织病理学改变和DNA序列分析证实了CESD的诊断，原因是溶酶体酸性脂肪酶（LIPA）基因第8外显子编码的最常见CESD突变G934A剪接位点缺陷的纯合性。
结论
这是文献中首例将腹泻作为成年CESD患者推测症状的病例。
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