Cystinuria in a patient with 19q12q13.1 deletion

Rojas, Teresa de; Aparicio, Cristina; Lucas, Carmen de; Martínez, Beatriz; Gil-Fournier, Belén; Ramiro-León, Soraya

doi:10.1007/s13730-015-0193-y

Cited by 1 publication

(1 citation statement)

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“…A contiguous gene deletion involving SLC7A9 has recently been described in a patient with the 19q13.1 microdeletion syndrome [39]. Clinical features of this syndrome include facial dysmorphism, ectodermal dysplasia, growth retardation, neurologic features and genitourinary anomalies.…”

Section: Associated Disordersmentioning

confidence: 99%

Cystinuria: genetic aspects, mouse models, and a new approach to therapy

et al. 2018

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Cystinuria, a genetic disorder of cystine transport, is characterized by excessive excretion of cystine in the urine and recurrent cystine stones in the kidneys and, to a lesser extent, in the bladder. Males generally are more severely affected than females. The disorder may lead to chronic kidney disease in many patients. The cystine transporter (b 0,+ ) is a heterodimer consisting of the rBAT (encoded by SLC3A1) and b 0,+ AT (encoded by SLC7A9) subunits joined by a disulfide bridge. The molecular basis of cystinuria is known in great detail, and this information is now being used to define genotype-phenotype correlations. Current treatments for cystinuria include increased fluid intake to increase cystine solubility and the administration of thiol drugs for the more severe cases. These drugs, however, have poor patient compliance due to adverse effects. Thus, there is a need to reduce or eliminate the risks associated with therapy for cystinuria. Four mouse models for cystinuria have been described and these models provide a resource for evaluating the safety and efficacy of new therapies for cystinuria. We are evaluating a new approach for the treatment of cystine stones based on the inhibition of cystine crystal growth by cystine analogs. Our ongoing studies indicate that cystine diamides are effective in preventing cystine stone formation in the Slc3a1 knockout mouse model for cystinuria. In addition to crystal growth, crystal aggregation is required for stone formation. Male and female mice with cystinuria have comparable levels of crystalluria, but very few female mice form stones. The identification of

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Section: Associated Disordersmentioning

confidence: 99%