Results 41 to 50 of about 8,821 (269)

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

Pharmacological interventions for the management of cystinuria: a systematic review. [PDF]

J Nephrol, 2023
Cystinuria is a rare genetic kidney stone disease, with no cure. Current treatments involve lowering urinary cystine levels and increasing cystine solubility.
Bhatt NP, Deshpande AV, Starkey MR.
europepmc   +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

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome

Molecular Syndromology, 2022
Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A.
Ilknur Surucu Kara, U. Oncul, E. Kose, Husnu Mutlu Turan, A. Ceylan, F. T. Eminoğlu   +5 more
semanticscholar   +1 more source

ACVIM Small Animal Consensus Recommendations on the Treatment and Prevention of Uroliths in Dogs and Cats. [PDF]

, 2016
In an age of advancing endoscopic and lithotripsy technologies, the management of urolithiasis poses a unique opportunity to advance compassionate veterinary care, not only for patients with urolithiasis but for those with other urinary diseases as well.
Adams, LG, Bartges, JW, Berent, AC, Lulich, JP, Osborne, CA, Westropp, JL   +5 more
core   +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

Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney. [PDF]

, 2012
The transcription factor HNF1B, encoded by the TCF2 gene, plays an important role in the organogenesis of vertebrates. In humans, heterozygous mutations of HNF1B are associated with several diseases, such as pancreatic β-cell dysfunction leading to ...
Brändli, André W., Gull, Mazhar, Kahnert, Stefan, Roose, Magdalena, Ryffel, Gerhart U., Sauert, Kathrin, Waldner, Christoph   +6 more
core   +4 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
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

Differences in renal cortex transcriptional profiling of wild-type and novel type B cystinuria model rats

Urolithiasis, 2022
Cystinuria is a genetic disorder of cystine transport that accounts for 1–2% of all cases of renal lithiasis. It is characterized by hyperexcretion of cystine in urine and recurrent cystine lithiasis.
Zihan Zhang, Rui Zheng, Zhoutong Chen, X. Zhan, Xiaoliang Fang, Meizhen Liu, Yongmei Li, Yonghu Xu, Dali Li, Hongquan Geng, Xiaohui Zhang, Guofeng Xu   +11 more
semanticscholar   +1 more source