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首页> 外文期刊>Journal of pediatric genetics >CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis
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CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

机译：CTNS基因分析强调眼部检查对胱氨酸症患者的诊断价值

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摘要

Classic nephropathic cystinosis (CNC) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show failure to thrive and renal Fanconi syndrome (RFS). Slit-lamp examination reveals pathogno-monic corneal deposits of cystine crystals in virtually all affected individuals after 12-16 mo of age. A diagnosis of CNC is difficult to confirm in children living in Mexico and most Latin American countries, because cystine levels can be measured only at a few locations. We report the cystinosin genotype findings in 15 Latin American patients with a high clinical suspicion of CNC mainly due to RFS (n =13), although five of them lacked proper ophthalmologic assessment, despite being more than 1-year-old. Molecular analysis confirmed diagnosis of CNC in six (40%) of the 15 patients, five of them with RFS and cystine crystals. The remaining nine (60%) patients had a normal genotype. The predominance of a normal cystinosin genotype in eight of 13 patients with RFS (61.50%) reinforces the need to perform slit-lamp examinations in all patients with RFS over 1 yr of age, prior to measuring cystine or performing molecular cystinosin study, both methods not readily available throughout Latin America.
机译：经典的肾病性胱氨酸病（CNC）是一种常染色体隐性遗传和罕见的先天性代谢疾病，所有表现出to壮成长和肾Fanconi综合征（RFS）失败的儿童都应怀疑这种疾病。裂隙灯检查显示，在12至16个月的年龄之后，几乎所有受影响的个体中，胱氨酸晶体的病理诊断性角膜沉积物。在居住在墨西哥和大多数拉丁美洲国家的儿童中，很难确定CNC的诊断，因为只能在几个位置测量胱氨酸水平。我们报告了15名拉丁美洲裔患者的胱氨酸酶基因型发现，他们主要是由于RFS（n = 13）而导致对CNC有较高的临床怀疑，尽管其中5名患者尽管年龄超过1岁，但他们并未进行适当的眼科评估。分子分析证实了15例患者中有6例（40％）的CNC诊断，其中5例具有RFS和胱氨酸晶体。其余九名（60％）患者的基因型正常。在13名RFS患者中有8名（61.50％）的正常胱氨酸酶基因型占优势，这增强了对所有1岁以上RFS患者进行裂隙灯检查的必要性，然后再测量胱氨酸或进行分子胱氨酸酶研究，两种方法在整个拉丁美洲并不容易获得。

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