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Cystinuria

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https://www.readbyqxmd.com/read/28166740/delineation-of-cystinuria-in-saudi-arabia-a-case-series
#1
Abdulrahman Obaid, Marwan Nashabat, Khalid Al Fakeeh, Abdullah T Al Qahtani, Majid Alfadhel
BACKGROUND: Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi and may develop renal impairment. Medical management includes high fluid intake and chelating agents. To the best of our knowledge, this is the first study describing cystinuria in Saudi Arabia...
February 6, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28165480/%C3%AE-lipoic-acid-treatment-prevents-cystine-urolithiasis-in-a-mouse-model-of-cystinuria
#2
Tiffany Zee, Neelanjan Bose, Jarcy Zee, Jennifer N Beck, See Yang, Jaspreet Parihar, Min Yang, Sruthi Damodar, David Hall, Monique N O'Leary, Arvind Ramanathan, Roy R Gerona, David W Killilea, Thomas Chi, Jay Tischfield, Amrik Sahota, Arnold Kahn, Marshall L Stoller, Pankaj Kapahi
Cystinuria is an incompletely dominant disorder characterized by defective urinary cystine reabsorption that results in the formation of cystine-based urinary stones. Current treatment options are limited in their effectiveness at preventing stone recurrence and are often poorly tolerated. We report that the nutritional supplement α-lipoic acid inhibits cystine stone formation in the Slc3a1(-/-) mouse model of cystinuria by increasing the solubility of urinary cystine. These findings identify a novel therapeutic strategy for the clinical treatment of cystinuria...
February 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28142160/influence-of-tiopronin-on-the-metabolism-of-alcohol-in-healthy-subjects
#3
Friederike Nass, Berthold Schneider, Stefan Wilm, Bernd Kardel, Elisabeth Gabor, Fabian Merges, Michael Kroll
Drug safety- and drug-alcohol interaction studies have mainly been conducted for frequently prescribed drugs with high financial interests. Orphan drugs such as tiopronin (ORPHA25073) are often neglected in terms of clinical research. Tiopronin is a drug that is mainly used for the treatment of cystinuria. In this study, the interaction of tiopronin regarding the metabolism of alcohol (primary objective), and the safety of tiopronin in combination with alcohol was tested in healthy volunteers.In this randomised, double-blind, cross-over study, 13 healthy subjects received 500 mg tiopronin or an identical looking placebo 1 h before the intake of 0...
January 31, 2017: Drug Research
https://www.readbyqxmd.com/read/28049243/genotype-and-phenotype-analysis-in-pediatric-patients-with-cystinuria
#4
Ji Hyun Kim, Eujin Park, Hye Sun Hyun, Beom Hee Lee, Gu Hwan Kim, Joo Hoon Lee, Young Seo Park, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong
Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Mutational studies were performed by direct sequencing. Two of the 8 were male and 6 were female...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27979524/re-can-the-presence-of-crystalluria-predict-stone-formation-in-patients-with-cystinuria
#5
Dean G Assimos
No abstract text is available yet for this article.
January 2017: Journal of Urology
https://www.readbyqxmd.com/read/27940671/case-report-cystinuria-and-polycystic-kidney-disease
#6
Ajaydeep Sidhu, Angela Mittal, Xamayta Negroni-Balasquide, Alex Constantinescu, Kristin Kozakowski
Cystinuria and polycystic kidney disease are 2 genetic disorders that affect the genitourinary tract but rarely together. This case report presents 2 pediatric patients diagnosed with polycystic kidney disease and cystinuria requiring surgical treatment. Both subjects presented acutely with stone disease. Imaging studies and stone analysis established the diagnoses. Although coexistence of these 2 conditions is rare, cystinuria should be considered in the differential diagnosis when evaluating patients with cystic disease who develop renal calculi...
December 2016: Pediatrics
https://www.readbyqxmd.com/read/27867851/percutaneous-endoscopic-treatment-for-urinary-stones-in-pediatric-patients-where-we-are-now
#7
Paolo Caione, Giuseppe Collura, Michele Innocenzi, Mauro De Dominicis, Simona Gerocarni Nappo, Nicola Capozza
BACKGROUND: Percutaneous nephrolithotomy (PCNL) has been adopted for pyelo-calyceal stones treatment in pediatric patients, starting from the 90's. Very recently, miniaturization of endoscopic instruments allowed less invasive procedures with low complication rate. We reviewed our experience on upper tract stone treatment utilizing two different percutaneous accesses, focusing on the recent new miniaturized devices offered for pediatric renal stones. METHODS: Patients presenting upper tract urinary stones observed from January 2011 to December 2015 and treated by percutaneous renal access were prospectively evaluated: age, sex, metabolic issues, associated abnormalities, treatment modalities, hospital stay and complication rate were recorded in a specific database...
October 2016: Translational pediatrics
https://www.readbyqxmd.com/read/27721432/infrared-vibrational-spectroscopy-a-rapid-and-novel-diagnostic-and-monitoring-tool-for-cystinuria
#8
Katherine V Oliver, Annalisa Vilasi, Amandine Maréchal, Shabbir H Moochhala, Robert J Unwin, Peter R Rich
Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily form microcrystals that lead to cystine stone formation, especially at low urine pH. Diagnosis of cystinuria is made typically by ion-exchange chromatography (IEC) detection and quantitation, which is slow, laboursome and costly. More rapid and frequent monitoring of urinary cystine concentration would significantly improve the diagnosis and clinical management of cystinuria...
October 10, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27717296/cystine-stone-formers-have-impaired-health-related-quality-of-life-compared-with-noncystine-stone-formers-a-case-referent-study-piloting-the-wisconsin-stone-quality-of-life-questionnaire-among-patients-with-cystine-stones
#9
Necole M Streeper, Margaret L Wertheim, Stephen Y Nakada, Kristina L Penniston
INTRODUCTION: Cystinuria is a rare cause of urolithiasis. Affected patients have an earlier onset and more aggressive disease than patients with other stone etiologies. We assessed the health-related quality of life (HRQOL) of cystine stone-forming patients using the disease-specific Wisconsin Stone Quality of Life questionnaire (WISQOL). METHODS: Cystine patients treated in our stone clinics (n = 12) completed the WISQOL; information about medical and stone histories was gathered...
November 8, 2016: Journal of Endourology
https://www.readbyqxmd.com/read/27617526/penicillamine-associated-cutis-laxa-and-milia-en-plaque-case-report-and-review-of-cutaneous-changes-associated-with-penicillamine
#10
Tina Vajdi, Wiggin Wu Lee, Taraneh Paravar
Penicillamine-induced skin changes are rare and include: hypersensitivity reactions, autoimmune reactions, and cutaneous elastoses. We report a case of a 73-year-old man with cystinuria taking penicillamine for over 50 years who presented with penicillamine-induced cutis laxa and milia en plaque. A brief review of penicillamine induced skin changes, specifically cutis laxa and milia en plaque, is presented.
May 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27510800/metabolic-disturbances-in-chinese-children-with-urolithiasis-a-single-center-report
#11
Dong Yang, Hans-Göran Tiselius, Chuangxin Lan, Dong Chen, Kang Chen, Lili Ou, Yang Liu, Shaohong Xu, Guohua Zeng, Ming Lei, Wenqi Wu
Urinary stones and urine composition are the first steps in the process of recurrence prevention, but data concerning the association between the two compositions are scarce in Chinese children with urolithiasis. We retrospectively analyzed the records of children (age range 0-18 years) with urolithiasis in our center between March 2004 and December 2013. Stone analysis was carried out in 382 children and 24-hour urine analysis in 80 children. Analysis of both stone and 24-hour urine composition was completed in 56 children...
August 10, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27441596/characteristics-of-renal-papillae-in-kidney-stone-formers
#12
Tracy P Marien, Nicole L Miller
The mechanism of kidney stone formation is not well understood. In order to better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers...
December 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27409142/l-cystine-diamides-as-l-cystine-crystallization-inhibitors-for-cystinuria
#13
Longqin Hu, Yanhui Yang, Herve Aloysius, Haifa Albanyan, Min Yang, Jian-Jie Liang, Anthony Yu, Alexander Shtukenberg, Laura N Poloni, Vladyslav Kholodovych, Jay A Tischfield, David S Goldfarb, Michael D Ward, Amrik Sahota
l-Cystine bismorpholide (1a) and l-cystine bis(N'-methylpiperazide) (1b) were seven and twenty-four times more effective than l-cystine dimethyl ester (CDME) in increasing the metastable supersaturation range of l-cystine, respectively, effectively inhibiting l-cystine crystallization. This behavior can be attributed to inhibition of crystal growth at microscopic length scale, as revealed by atomic force microscopy. Both 1a and 1b are more stable than CDME, and 1b was effective in vivo in a knockout mouse model of cystinuria...
August 11, 2016: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27404572/cystinuria-associated-with-different-slc7a9-gene-variants-in-the-cat
#14
Keijiro Mizukami, Karthik Raj, Carl Osborne, Urs Giger
Cystinuria is a classical inborn error of metabolism characterized by a selective proximal renal tubular defect affecting cystine, ornithine, lysine, and arginine (COLA) reabsorption, which can lead to uroliths and urinary obstruction. In humans, dogs and mice, cystinuria is caused by variants in one of two genes, SLC3A1 and SLC7A9, which encode the rBAT and bo,+AT subunits of the bo,+ basic amino acid transporter system, respectively. In this study, exons and flanking regions of the SLC3A1 and SLC7A9 genes were sequenced from genomic DNA of cats (Felis catus) with COLAuria and cystine calculi...
2016: PloS One
https://www.readbyqxmd.com/read/27374390/-cystinic-nephrolythiasis-clinical-experience-and-new-diagnostic-and-therapeutic-perspectives
#15
Anna Gentili, Paolo Ria, Antonio Lupo, Antonia Fabris
Cystinuria is an inherited autosomal recessive disease with a prevalence 1:7000 and typical age of onset in the second decade of life. This nephrolithiasis is not always well known and well studied and for this reason it is often underdiagnosed. Cystinuria is characterized by increased urinary excretion of cystine and dibasic amino acids (lysine, ornithine, arginine) caused by defective transport of these amino acids across the luminal membrane of proximal tubule and small intestine cells. Two mutated genes responsible of this tubular defect are SLC3A1 on chromosome 2 and SLC7A9 on chromosome 19...
May 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27349612/-nephrolithiasis-of-adult-from-mechanisms-to-preventive-medical-treatment
#16
M Courbebaisse, C Prot-Bertoye, J-P Bertocchio, S Baron, G Maruani, S Briand, M Daudon, P Houillier
Nephrolithiasis is a very common (prevalence around 10 to 12% in France) and recurrent disorder. Nephrolithiasis is associated to chronic kidney disease and is responsible for 2 to 3% of cases of end-stage renal disease, mainly if it is associated to nephrocalcinosis or to a monogenic disorder (1.6% of nephrolithiasis in adults, among them 1% of cystinuria). To understand the underlying pathophysiological processes, stone analysis (morphology and using infrared spectrophotometry) as well as minimal biological assessment including urine crystal research are required...
January 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27186779/re-imaging-and-surgical-utilization-for-pediatric-cystinuria-patients-a-single-institution-cohort-study
#17
COMMENT
Dean G Assimos
No abstract text is available yet for this article.
May 2016: Journal of Urology
https://www.readbyqxmd.com/read/27098938/metabolic-features-and-renal-outcomes-of-urolithiasis-in-children
#18
Sang Taek Lee, Heeyeon Cho
AIM: The incidence of pediatric urolithiasis has increased over the last century because of dietary changes, metabolic abnormalities, climate change, and genitourinary abnormalities. Data on pediatric urolithiasis in non-endemic countries are limited. The aim of this study was to evaluate the clinical findings and metabolic etiology of urolithiasis in Korean children. MATERIAL AND METHODS: The medical records of 73 Korean children who were newly diagnosed with urolithiasis from January 2010 to December 2013 were retrospectively analyzed...
July 2016: Renal Failure
https://www.readbyqxmd.com/read/26929440/a-case-of-cystinuria-presenting-with-cerebellar-ataxia-and-dementia
#19
Rie Tohge, Shinichi Sakamoto, Makio Takahashi
Cystinuria normally manifests as recurrent urinary stones and renal dysfunction, but can present to neurologists with ataxia, posterior column impairment, intellectual deficiency and pyramidal and extrapyramidal signs; the neuroradiological features include cerebellar, brainstem and cerebral atrophy. It is an autosomal recessive disease caused by a transport disorder of cystine and dibasic amino acids in renal proximal tubules. Most cases have an SLC3A1 and/or SLC7A9 gene mutation but some recent Japanese patients have had distinct heterozygous gene mutations...
August 2016: Practical Neurology
https://www.readbyqxmd.com/read/26837681/a-novel-mutation-in-slc3a1-gene-in-patients-with-cystinuria
#20
Samaneh Markazi, Majid Kheirollahi, Abbas Doosti, Mehrdad Mohammadi, Leila Koulivand
Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters,  and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes. These defects prevent appropriate reabsorption of dibasic amino acids lysine, ornithine, and arginine. Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). In molecular term, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene)...
January 2016: Iranian Journal of Kidney Diseases
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