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Cystinuria

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https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#1
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28717662/clinical-and-molecular-characterization-of-cystinuria-in-a-french-cohort-relevance-of-assessing-large-scale-rearrangements-and-splicing-variants
#2
Pascaline Gaildrat, Said Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, Guillaume Bollee, Hélène Tubeuf, Thomas Charles, Aurelia Bertholet-Thomas, Alice Goldenberg, Frederic Barbey, Alexandra Martins, Pascale Saugier-Veber, Thierry Frébourg, Bertrand Knebelmann, Soumeya Bekri
BACKGROUND: Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney and the intestine leading to increased urinary cystine excretion and nephrolithiasis. Two genes, SLC3A1 and SLC7A9, coding respectively for rBAT and b0,+AT, account for the genetic basis of cystinuria. METHODS: This study reports the clinical and molecular characterization of a French cohort including 112 cystinuria patients and 25 relatives from 99 families. Molecular screening was performed using sequencing and Quantitative Multiplex PCR of Short Fluorescent Fragments analyses...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28689648/clinical-and-genetic-characterization-of-chinese-pediatric-cystine-stone-patients
#3
Luming Shen, Xiaoming Cong, Xin Zhang, Ninghong Wang, Ping Zhou, Yan Xu, Qingyi Zhu, Xiaojian Gu
INTRODUCTION: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries. OBJECTIVE: To investigate the characteristics of Chinese pediatric cystine stone patients. PATIENTS AND METHODS: Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated...
June 24, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#4
Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller, Jean-François Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in two genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a hyperechoic colon (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28585658/cystinuria-caused-by-a-slc7a9-missense-mutation-in-siamese-crossbred-littermates-in-germany
#5
Stephanie Hilton, Keijiro Mizukami, Urs Giger
Cystinuria is caused by defective proximal renal tubular reabsorption of the amino acids cystine, ornithine, lysine, and arginine (COLA). The low solubility of cystine in mildly acidic urine may lead to the formation of urinary cystine crystals and uroliths. Much progress has been made recently in the diagnosis and understanding of cystinuria in companion animals. In cats, cystinuria affects equally both genders independent of neutering status and, despite being rare, already more cystinuria-causing mutations have been detected in cats compared to dogs...
June 1, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/28461819/report-of-slc3a1-rbat-gene-mutations-in-iranian-cystinuria-patients-a-direct-sequencing-study
#6
Samaneh Markazi, Majid Kheirollahi, Abbas Doosti, Mehrdad Mohammadi
BACKGROUND: Considering a few studies on the genetic basis of the cystinuria in the Middle East and the population-specific distribution of mutations in the SLC3A1, we tried to find genetic variants in three exons (1, 3, and 8) of SLC3A1. MATERIALS AND METHODS: In this study, exons 1, 3, and 8 of SLC3A1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase chain reaction and sequencing. RESULTS: There were five different variations in our studied population...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28420322/epidemiology-of-paediatric-renal-stone-disease-a-22-year-single-centre-experience-in-the-uk
#7
Naomi Issler, Stephanie Dufek, Robert Kleta, Detlef Bockenhauer, Naima Smeulders, William Van't Hoff
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology. METHODS: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted...
April 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28411956/medical-nutrition-therapy-for-pediatric-kidney-stone-prevention-part-3-cystinuria
#8
Jennifer Carvalho-Salemi, Lorrie Moreno, Mini Michael
No abstract text is available yet for this article.
May 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/28389407/d-penicillamine-combined-with-inhibitors-of-hydroperoxide-metabolism-enhances-lung-and-breast-cancer-cell-responses-to-radiation-and-carboplatin-via-h2o2-mediated-oxidative-stress
#9
Sebastian J Sciegienka, Shane R Solst, Kelly C Falls, Joshua D Schoenfeld, Adrienne R Klinger, Natalie L Ross, Samuel N Rodman, Douglas R Spitz, Melissa A Fath
D-penicillamine (DPEN), a copper chelator, has been used in the treatment of Wilson's disease, cystinuria, and rheumatoid arthritis. Recent evidence suggests that DPEN in combination with biologically relevant copper (Cu) concentrations generates H2O2 in cancer cell cultures, but the effects of this on cancer cell responses to ionizing radiation and chemotherapy are unknown. Increased steady-state levels of H2O2 were detected in MB231 breast and H1299 lung cancer cells following treatment with DPEN (100µM) and copper sulfate (15µM)...
July 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28270646/a-novel-mutation-in-slc7a9-gene-in-cystinuria
#10
Saeedeh Fazaeli, Saeideh Ashouri, Majid Kheirollahi, Mehrdad Mohammadi, Mohammad Fazilati
INTRODUCTION: Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with mutations in the SLC3A1 and SLC7A9 genes. Despite the population-specific distribution of mutations in the SLC7A9 genes, there are few genetic data reported for cystinuric patients from the Middle East. MATERIALS AND METHODS: Exon 4 of the SLC7A9 gene was sequenced in 21 patients with cystinuria, using the polymerase chain reaction and sequencing methods...
March 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28248950/stones-cystinuria-supplement-supports-solubilization
#11
Clemens Thoma
No abstract text is available yet for this article.
June 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/28247719/-cystine-as-a-risk-factor-of-the-stone-formation-in-kidney-the-reference-value-range-of-urinary-excretion-the-stage-diagnosis-of-cystine-metabolism-disorder
#12
A A Gres, D M Nitkin, T M Juraha, A A Sivakow
OBJECTIVE: to define the reference value ranges of cystine, lysine and arginine urinary excretion relative to creatinine in the morning urine samples for the metabolic disorders diagnosis leading to the formation of urinary stones. MATERIALS AND METHODS: the study involved 695 healthy individuals aged 1-17 and 1564 patients with urolithiasis aged 7-45. The content of cystine in the urine samples was determined by high performance liquid chromatography. The chemical composition of urinary stones was investigated by methods of the qualitative chemical reaction and the crystals microscopy...
August 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28239172/stones-a-novel-approach-to-stone-prevention-in-cystinuria
#13
Ellen F Carney
No abstract text is available yet for this article.
April 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28222205/complex-cystine-kidney-stones-treated-with-combined-robot-assisted-laparoscopic-pyelolithotomy-and-intraoperative-renoscopy
#14
Luca Meggiato, Francesco Cattaneo, Fabio Zattoni, Fabrizio Dal Moro, Paolo Beltrami, Filiberto Zattoni
INTRODUCTION: Cystinuria, a rare autosomal recessive disease characterized by a defect in cystine renal reabsorption, can often determine complex cystine renal calculi, leading to important complications such as urinary obstruction, urinary infections, and impaired kidney function. Complex kidney stones can have a difficult management and can be very arduous to treat. CASE DESCRIPTION: We present the case of a 20-year-old Jeowah's witness woman with complex cystine renal stones treated with combined robot-assisted laparoscopic pyelolithotomy and intraoperative renoscopy...
February 18, 2017: Urologia
https://www.readbyqxmd.com/read/28166740/delineation-of-cystinuria-in-saudi-arabia-a-case-series
#15
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
#16
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...
March 2017: Nature Medicine
https://www.readbyqxmd.com/read/28142160/influence-of-tiopronin-on-the-metabolism-of-alcohol-in-healthy-subjects
#17
RANDOMIZED CONTROLLED TRIAL
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...
April 2017: Drug Research
https://www.readbyqxmd.com/read/28049243/genotype-and-phenotype-analysis-in-pediatric-patients-with-cystinuria
#18
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
#19
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
#20
REVIEW
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
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