Abstract:
:Cystinuria is an inherited disorder of the dibasic amino acid transport system in the proximal tubule and the small intestine. Two responsible genes have been identified, the SLC3A1 on chromosome 2 and the SLC7A9 on chromosome 19. The inability of renal tubules to reabsorb cystine and the relative insolubility of cystine at physiological urine pH lead to stone formation. Cornerstone of the treatment remains stone prevention with hyperhydration, urinary alkalization, and pharmacologic therapy. Repeated stone formation necessitates urologic interventions, which mainly include minimally invasive procedures. The appropriate management of cystinuria is often challenging and requires close follow-up of the patient.
journal_name
Urologyjournal_title
Urologyauthors
Saravakos P,Kokkinou V,Giannatos Edoi
10.1016/j.urology.2013.10.013subject
Has Abstractpub_date
2014-04-01 00:00:00pages
693-9issue
4eissn
0090-4295issn
1527-9995pii
S0090-4295(13)01320-4journal_volume
83pub_type
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