Cystinuria: genetic aspects, mouse models, and a new approach to therapy
Sign Up to like & getrecommendations! Published in 2018 at "Urolithiasis"
DOI: 10.1007/s00240-018-1101-7
Abstract: 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… read more here.
Keywords: mouse models; cystine; cystinuria genetic; new approach ... See more keywords
Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
Sign Up to like & getrecommendations! Published in 2021 at "Urology Case Reports"
DOI: 10.1016/j.eucr.2020.101473
Abstract: Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select… read more here.
Keywords: bladder stone; large bladder; efficacy transurethral; bladder ... See more keywords
MP10-14 DEFINING THE INHERITANCE OF CYSTINURIA; IS IT ALWAYS AUTOSOMAL RECESSIVE?
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Urology"
DOI: 10.1097/ju.0000000000000830.014
Abstract: INTRODUCTION AND OBJECTIVE: Cystinuria is a rare genetic cause for kidney stones. Mutations have been found in two genes, SLC3A1 and SLC7A9, on chromosome 2 and 19 respectively, which code for the two subunits of… read more here.
Keywords: inheritance; cytology; autosomal recessive; cystine ... See more keywords
Unraveling the natural history of presymptomatic cystinuria
Sign Up to like & getrecommendations! Published in 2023 at "Current Opinion in Nephrology and Hypertension"
DOI: 10.1097/mnh.0000000000000880
Abstract: Purpose of review Servais et al. recently published clinical practice recommendations for the care of cystinuria patients. However, these guidelines were largely based on retrospective data from adults and children presenting with stones. Significant questions… read more here.
Keywords: natural history; presymptomatic cystinuria; history presymptomatic; unraveling natural ... See more keywords
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine
Sign Up to like & getrecommendations! Published in 2017 at "BMC Genomics"
DOI: 10.1186/s12864-017-3913-1
Abstract: BackgroundCystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known… read more here.
Keywords: medicine; associating mutations; mutations causing; disease ... See more keywords
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Public Health"
DOI: 10.18502/ijph.v50i9.7063
Abstract: Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and… read more here.
Keywords: iranian patient; patient cystinuria; novel variant; cystinuria case ... See more keywords
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2023.1097442
Abstract: Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations.… read more here.
Keywords: course; case; pregnancy; typical course ... See more keywords