CYSTINURIA: Crystals that Make a Baby Cry.
作者信息
Trivedi Dhiraj J, Patil Vijayetha P, Kamble Pramod S
机构信息
Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India.
出版信息
Indian J Clin Biochem. 2017 Jul;32(3):364-366. doi: 10.1007/s12291-016-0609-2. Epub 2016 Aug 27.
Abstract
Cystinuria is a common aminoaciduria due to a COAL transporter defect in renal tubular epithelium. Increased level of cystine in urine with occasional cystine crystal can be diagnostic. With reference to clinical examinations, symptoms and laboratory reports we present a case of primary cystinuria. Prevention of complication in cystinuric relies on detection at early stage and targeting treatment towards maintaining low level of urinary cystine level.
摘要
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