CYSTINURIA: Crystals that Make a Baby Cry.

Autor: Trivedi DJ; Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India., Patil VP; Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India., Kamble PS; Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka India.
Jazyk: angličtina
Zdroj: Indian journal of clinical biochemistry : IJCB [Indian J Clin Biochem] 2017 Jul; Vol. 32 (3), pp. 364-366. Date of Electronic Publication: 2016 Aug 27.
DOI: 10.1007/s12291-016-0609-2
Abstrakt: 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.
Databáze: MEDLINE