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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele
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Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele

机译：成年患者中有1种突变，过表达的NPC1等位基因的独特C型Niemann-Pick疾病的临床，细胞学和生化表型

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Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C. The diagnosis was supported by a positive filipin test (?￠????variant biochemical phenotype?￠???? of cholesterol accumulation) in cultured fibroblasts, high numbers of ?￠????Niemann-Pick cells?￠???? in the bone marrow, and 1 positive out of 3 NP-C biomarkers tested, but NP-C was not definitely confirmed genetically. She showed only 1 known NPC1 variant (3 bp deletion in exon 18; p.N916del); this allele, however, being distinctly overexpressed at the messenger RNA level as compared to the wild-type allele, as a not as yet clarified (copathogenic?) phenomenon. The patient?￠????s mother, also carrying the p.N916del allele but without overexpression, has a chronic inflammatory disease of the central nervous system classified as multiple sclerosis. However, her severe clinical phenotype includes some signs also consistent with NP-C. The laboratory diagnosis of NP-C can be challenging in detecting novel disease constellations.
机译：C型尼曼-皮克病（NP-C）是一种罕见的常染色体隐性神经内脏溶酶体贮积病。我们报道了一名25岁的女性青少年患者，该患者具有典型的神经系统症状，包括NP-C的垂直凝视麻痹。在培养的成纤维细胞中，大量的尼曼-皮克细胞（Niemann-Pick cell），培养的成纤维细胞中的磷脂酶试验阳性（胆固醇积累的不同生化表型，胆固醇积累）证实了该诊断。 ??在骨髓中检测到3种NP-C生物标志物中有1种呈阳性反应，但NP-C在基因上并未得到肯定。她只显示了1个已知的NPC1变异体（第18外显子缺失3 bp; p.N916del）。然而，与野生型等位基因相比，该等位基因在信使RNA水平上明显过表达，这是尚未阐明的（致病性？）现象。患者的母亲也携带p.N916del等位基因，但没有过度表达，患有中枢神经系统的慢性炎症性疾病，被分类为多发性硬化症。但是，她的严重临床表型包括一些也与NP-C相符的体征。 NP-C的实验室诊断在检测新型疾病群方面可能具有挑战性。

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