Urinary Cystine/Creatinine Concentrations Before and After Castration in Dogs With Suspected Androgen-Dependent Cystine Urolithiasis. [PDF]
J Vet Intern MedBackground Androgen‐dependent cystinuria has been described in intact male dogs. Castration has been recommended to reduce urinary cystine excretion. Hypothesis/Objectives Urinary cystine/creatinine concentration will significantly decrease in dogs with ...
Larsen JA +6 more
europepmc +3 more sources
Cystinuria: an inborn cause of urolithiasis [PDF]
Orphanet Journal of Rare Diseases, 2012 Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Thomas Eggermann +2 more
openalex +3 more sources
Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria. [PDF]
BMC Med Genomics, 2023 Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Liu D +9 more
europepmc +2 more sources
CASE REPORT OF A PATIENT WITH CYSTINURIA
Slovenska pediatrija, 2020 Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney.
Matej Kemperle, Robert Kordič, Rina Rus
openalex +2 more sources
Cystinuria in an Australian Cattle Dog Family-A Seemingly Androgen-Associated Autosomal Dominant Trait. [PDF]
Vet SciIn Australian Cattle Dogs (AUCDs), cystinuria was reported to be an autosomal dominant trait caused by a 6 bp deletion in the SLC3A1 gene (type II-A). Here we report an androgen association in this breed.
Kehl A +6 more
europepmc +2 more sources
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience. [PDF]
Biomedicines, 2023 Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients ...
Jeong JY +6 more
europepmc +2 more sources
Urology Case Reports, 2020 Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood.
Tomoki Okada +5 more
openalex +3 more sources
Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants. [PDF]
Sci RepCystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b0,+AT will cause Cystinuria. The current work analyzed the clinical and genetic characteristics of Japanese Cystinuria
Sakamoto S +23 more
europepmc +2 more sources
Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
europepmc +2 more sources
Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery. [PDF]
Mol Ther Nucleic AcidsWe used kidney-targeted, non-viral, transposon-mediated gene delivery to express the mouse Slc3a1 transgene in one kidney of cystinuria type A (Slc3a1−/−) mice.
Woodard LE +11 more
europepmc +2 more sources