MYOPATHY AND CYSTINE STORAGE IN MUSCLES IN A PATIENT WITH NEPHROPATHIC CYSTINOSIS
MYOPATHY AND CYSTINE STORAGE IN MUSCLES IN A PATIENT WITH NEPHROPATHIC CYSTINOSIS
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DOI：
10.1056/nejm198812013192206
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发表时间：
1988-12-01
影响因子：
158.5
通讯作者：
HUTCHISON, HT
中科院分区：
文献类型：
--
作者：
GAHL, WA;DALAKAS, MC;HUTCHISON, HT
肾病性胱氨酸贮积症是一种溶酶体贮积症，其特征是在出生后第一年出现肾小管范可尼综合征，并伴有生长迟缓、渐进性畏光和肾小球衰竭，需要在大约 10 岁时进行透析或肾移植。1,2，该疾病是由于二硫键胱氨酸跨溶酶体膜的运输缺陷所致3456，随后胱氨酸的积累导致形成许多组织中都有晶体。治疗包括用氨基硫醇半胱胺（β-巯基乙胺）等药物替代肾小管损失和消耗细胞内胱氨酸储备。7口服半胱胺疗法。 。 。
NEPHROPATHIC cystinosis is a lysosomal storage disorder characterized by the appearance of renal tubular Fanconi's syndrome in the first year of life and by growth retardation, progressive photophobia, and glomerular failure requiring dialysis or renal transplantation at approximately 10 years of age.1,2, The disease results from the defective transport of the disulfide amino acid cystine across the lysosomal membrane3456the consequent accumulation of cystine leads to the formation of crystals in many tissues. Treatment involves the replacement of renal tubular losses and the depletion of intracellular cystine stores with agents such as the aminothiol cysteamine (β-mercaptoethylamine).7Oral cysteamine therapy . . .