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Las personas con cistinuria pueden experimentar eventos recurrentes de litiasis debido a la relativa insolubilidad de la cistina en el pH fisiológico de la orina, lo que resulta en deterioro de la función renal. El pHmetro Lit-Control® es un dispositivo médico que permite la automedición precisa del pH de la orina. El objetivo principal de este estudio fue comparar la usabilidad del pHmetro Lit-Control® con las tiras reactivas para la automonitorización domiciliaria del pH urinario por parte de pacientes con cistinuria, y su satisfacción general con cada herramienta.

Cystinuria is an autosomal recessive amino-aciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. Linkage with heterogeneity was proved (alpha = 0.45; P < 0.008). Type I/I families showed homogeneous linkage to SLC3A1 (Zmax > 3.0 at theta = 0.00; alpha = 1), whereas types I/III and III/III were not linked. Our data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III. This result establishes genetic heterogeneity for cystinuria, classically considered as a multiallelic monogenic disease.