Literature DB >> 28811699

CYSTINURIA: Crystals that Make a Baby Cry.

Dhiraj J Trivedi1, Vijayetha P Patil1, Pramod S Kamble1.   

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.

Entities:  

Keywords:  Aminoaciduria; Ammoniacal silver nitroprusside test; Crystal; Cystinuria; IEM

Year:  2016        PMID: 28811699      PMCID: PMC5539004          DOI: 10.1007/s12291-016-0609-2

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN: 0970-1915


  6 in total

Review 1.  Cystinuria: a review of the pathophysiology and management.

Authors:  A Singer; S Das
Journal:  J Urol       Date:  1989-09       Impact factor: 7.450

Review 2.  Cystine calculi: challenging group of stones.

Authors:  Kamran Ahmed; Prokar Dasgupta; Mohammad Shamim Khan
Journal:  Postgrad Med J       Date:  2006-12       Impact factor: 2.401

Review 3.  The molecular basis of cystinuria.

Authors:  P Goodyer
Journal:  Nephron Exp Nephrol       Date:  2004

Review 4.  Cystinuria.

Authors:  Aditya Mattoo; David S Goldfarb
Journal:  Semin Nephrol       Date:  2008-03       Impact factor: 5.299

Review 5.  Cystinuria: an inborn cause of urolithiasis.

Authors:  Thomas Eggermann; Andreas Venghaus; Klaus Zerres
Journal:  Orphanet J Rare Dis       Date:  2012-04-05       Impact factor: 4.123

6.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Authors:  Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Journal:  J Am Soc Nephrol       Date:  2002-10       Impact factor: 10.121

  6 in total

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