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Cystinuria

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https://www.readbyqxmd.com/read/27867851/percutaneous-endoscopic-treatment-for-urinary-stones-in-pediatric-patients-where-we-are-now
#1
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
#2
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
#3
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
#4
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.
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27510800/metabolic-disturbances-in-chinese-children-with-urolithiasis-a-single-center-report
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
June 24, 2016: 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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/26781171/can-the-presence-of-crystalluria-predict-stone-formation-in-patients-with-cystinuria
#15
Kathie A Wong, Caroline Pardy, Soma Pillay, Thanos Athanasiou, Giles Rottenberg, Matthew Bultitude, Ashish Chandra, Kay Thomas
OBJECTIVES: To determine the feasibility of crystalluria as a biomarker for stone disease in patients with cystinuria. PATIENTS AND METHODS: All patients attending a multidisciplinary cystinuria clinic provided early morning urine (EMU) and clinic urine (CU) samples for crystal measurement over a 2-year period (August 1, 2010, to July 31, 2012). Association between presence of crystals, presence of stone(s), and new stone growth (NSG) was determined using the chi-square test...
May 2016: Journal of Endourology
https://www.readbyqxmd.com/read/26739563/novel-cystine-transporter-in-renal-proximal-tubule-identified-as-a-missing-partner-of-cystinuria-related-plasma-membrane-protein-rbat-slc3a1
#16
Shushi Nagamori, Pattama Wiriyasermkul, Meritxell Espino Guarch, Hirohisa Okuyama, Saya Nakagomi, Kenjiro Tadagaki, Yumiko Nishinaka, Susanna Bodoy, Kazuaki Takafuji, Suguru Okuda, Junko Kurokawa, Ryuichi Ohgaki, Virginia Nunes, Manuel Palacín, Yoshikatsu Kanai
Heterodimeric amino acid transporters play crucial roles in epithelial transport, as well as in cellular nutrition. Among them, the heterodimer of a membrane protein b(0,+)AT/SLC7A9 and its auxiliary subunit rBAT/SLC3A1 is responsible for cystine reabsorption in renal proximal tubules. The mutations in either subunit cause cystinuria, an inherited amino aciduria with impaired renal reabsorption of cystine and dibasic amino acids. However, an unsolved paradox is that rBAT is highly expressed in the S3 segment, the late proximal tubules, whereas b(0,+)AT expression is highest in the S1 segment, the early proximal tubules, so that the presence of an unknown partner of rBAT in the S3 segment has been proposed...
January 19, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26683112/commentary-to-imaging-and-surgical-utilization-for-pediatric-cystinuria-patients-a-single-institution-cohort-study
#17
COMMENT
Gregory E Tasian
No abstract text is available yet for this article.
April 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/26614112/how-should-patients-with-cystine-stone-disease-be-evaluated-and-treated-in-the-twenty-first-century
#18
REVIEW
Kim Hovgaard Andreassen, Katja Venborg Pedersen, Susanne Sloth Osther, Helene Ulrik Jung, Søren Kissow Lildal, Palle Joern Sloth Osther
Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed. The full implications of type A, B or AB status are not yet fully understood but may have implications for prognosis, management and treatment. Despite better understanding of the molecular basis of cystinuria the principles of recurrence prevention have remained essentially the same through decades...
February 2016: Urolithiasis
https://www.readbyqxmd.com/read/26597229/imaging-and-surgical-utilization-for-pediatric-cystinuria-patients-a%C3%A2-single-institution-cohort-study
#19
Briony K Varda, Emilie K Johnson, Kathryn L Johnson, Ilina Rosoklija, Michelle A Baum, Caleb P Nelson
OBJECTIVE: Although cystinuria is rare, its clinical manifestations are life-long. Little is known about healthcare utilization in this population. STUDY DESIGN: Through billing records and chart review, we identified pediatric patients with cystinuria treated at our institution. Variables included demographics, gender, race, comorbidities, location of presentation, presenting symptoms, initial laboratory data, and stone characteristics. Outcomes included the number and type of imaging tests and procedures performed...
April 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/26540764/nephrolithiasis-and-nephrocalcinosis-in-children-metabolic-and-genetic-factors
#20
REVIEW
Velibor Tasic, Zoran Gucev
Diagnosis and management of pediatric nephrolithiasis/nephrocalcinosis is a very complex and challenging task for every pediatrician. It is based on correct. disease history taking, which may guide to the mode of inheritance (dominant, recessive, x-linked). Ethnicity and consanguinity should also be investigated since they predispose to high prevalence of certain disorders. One should always begin with cheap and available screening tests. Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, hypocitraturia, cystinuria, primary hyperoxaluria and renal hypouricemia...
September 2015: Pediatric Endocrinology Reviews: PER
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