Cistinuriala importancia del sedimento

  1. Carmen Domínguez Grandal 1
  2. M. Sandra Álvarez Pérez 1
  3. Manuel Docampo Ferreira 1
  4. Julia Mariño Abal 1
  5. Araceli Martínez Docampo 1
  1. 1 Servicio de Análisis Clínicos, Complexo Hospitalario Universitario de Vigo (CHUVI), Vigo, La Coruña, España
Journal:
Revista del laboratorio clínico

ISSN: 1888-4008

Year of publication: 2019

Volume: 12

Issue: 4

Pages: 161-164

Type: Article

DOI: HTTPS://DOI.ORG/10.1016/J.LABCLI.2019.02.002 DIALNET GOOGLE SCHOLAR

More publications in: Revista del laboratorio clínico

Abstract

Cystinuria is caused by the excess of an amino acid called cystine (amino acid dimer cysteine), in the urine. It was first described at the beginning of the 19th century. It is a congenital metabolic disease with an autosomal recessive inheritance pattern. It is characterised by a defect in transport, which affects certain dibasic amino acids, cystine, ornithine, lysine, and arginine in its reabsorption into the renal tubule and gastrointestinal tract. As a result, only cystine (due to its great insolubility in acid urine owing to increased excretion and supersaturation in urine), promotes the formation of crystals or precipitates that form stones. The case is presented of an adult with cystinuria, who was diagnosed by the crystals found in the urinary sediment, after making a differential diagnosis with the crystals of anhydrous cholesterol, with which they can be confused.