Results 21 to 30 of about 3,609 (206)

An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. [PDF]

PLoS ONE, 2014
Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria).
Marine Livrozet, Sophie Vandermeersch, Laurent Mesnard, Elizabeth Thioulouse, Jean Jaubert, Jean-Jacques Boffa, Jean-Philippe Haymann, Laurent Baud, Dominique Bazin, Michel Daudon, Emmanuel Letavernier   +10 more
doaj   +1 more source

Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report

Frontiers in Pediatrics, 2022
Cystinuria is a recessively inherited genetic disease causing recurrent kidney stones with risk of kidney failure. The discovery of hyperechoic colonic content on an antenatal ultrasound is considered to be a pathognomic sign of cystinuria.
Antje Knapke, Guylhène Bourdat Michel, Isabelle Marey, Pauline Le Tanno   +3 more
doaj   +1 more source

A case of cystinuria with a heterozygous mutation presenting with recurrent multiple renal stones in a 14-year-old boy [PDF]

Childhood Kidney Diseases, 2023
Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine.
Hye Won Cho, Min Hwa Son, Hyung Eun Yim
doaj   +1 more source

Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone

Urology Case Reports, 2021
Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood.
Tomoki Okada, Kazumi Taguchi, Taiki Kato, Shinichi Sakamoto, Tomohiko Ichikawa, Takahiro Yasui   +5 more
doaj   +1 more source

Cystinuria: clinical practice recommendation

, 2021
International audienceCystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH.
Knebelmann, B., Levtchenko, E., Heijkant, M.,, Capolongo, G., Halbritter, J., Bultitude, M., Bekri, S., Daudon, M., Doizi, S., Cerkauskiene, R., Gillion, V., Heijkant, M., van Den, Bertholet-Thomas, A., Emma, F., Gràcia-Garcia, S., Heidet, L., Lemoine, S.   +16 more
core   +2 more sources

Successful pre-emptive kidney transplantation in a cystinuria patient with nephrolithiasis-related end-stage renal disease

Renal Replacement Therapy, 2019
Background Cystinuria is a rare autosomal recessive metabolic disorder that affects renal and intestinal cystine transport. Cystine stones are found in only 1–2% of all stone formers.
Masatoshi Matsunami, Kazuya Kinoshita, Kiho Tanaka, Yuki Nakamura, Kenichi Ohashi, Takeshi Fujii, Yoshifumi Ubara, Yasuo Ishii   +7 more
doaj   +1 more source

Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

Annals of Clinical and Translational Neurology, 2021
Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo   +8 more
doaj   +1 more source

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

BMC Nephrology, 2018
Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative.
Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann   +4 more
doaj   +1 more source

A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype

Société Internationale d’Urologie Journal, 2023
ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA ...
Lisa-Ann Kaestner, John Lazarus, Azola Salukazana , Elmi Muller , Karl-Heinz Jehle   +4 more
doaj   +1 more source

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report

BMC Urology, 2023
Background Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported.
Peide Bai, WenZhao Zhang, Longhui Lai, Haichao Huang, Jiaxuan Qin, Bo Duan, Huiqiang Wang, Yuedong Chen, Yuanyuan Jia, Jinchun Xing, Tao Wang, Bin Chen   +11 more
doaj   +1 more source