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https://www.readbyqxmd.com/read/27906637/prevalence-of-urat1-allelic-variants-in-the-roma-population
#1
Blanka Stiburkova, Dana Gabrikova, Pavel Čepek, Pavel Šimek, Pavol Kristian, Elizabeth Cordoba-Lanus, Felix Claverie-Martin
The Roma represents a transnational ethnic group, with a current European population of 8-10 million. The evolutionary process that had the greatest impact on the gene pool of the Roma population is called the founder effect. Renal hypouricemia (RHUC) is a rare heterogenous inherited disorder characterized by impaired renal urate reabsorption. The affected individuals are predisposed to recurrent episodes of exercise-induced nonmyoglobinuric acute kidney injury and nephrolithiasis. To date, more than 150 patients with a loss-of-function mutation for the SLC22A12 (URAT1) gene have been found, most of whom are Asians...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27896392/tubular-and-genetic-disorders-associated-with-kidney-stones
#2
REVIEW
Nilufar Mohebbi, Pietro Manuel Ferraro, Giovanni Gambaro, Robert Unwin
This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding...
November 28, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27878608/claudins-in-barrier-and-transport-function-the-kidney
#3
REVIEW
Yongfeng Gong, Jianghui Hou
Claudins are discovered to be key players in renal epithelial physiology. They are involved in developmental, physiological, and pathophysiological differentiation. In the glomerular podocytes, claudin-1 is an important determinant of cell junction fate. In the proximal tubule, claudin-2 plays important roles in paracellular salt reabsorption. In the thick ascending limb, claudin-14, -16, and -19 regulate the paracellular reabsorption of calcium and magnesium. Recessive mutations in claudin-16 or -19 cause an inherited calcium and magnesium losing disease...
November 23, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27847154/primary-hyperparathyroidism-predicts-hypertension-results-from-the-national-inpatient-sample
#4
A Kalla, P Krishnamoorthy, A Gopalakrishnan, J Garg, N C Patel, V M Figueredo
INTRODUCTION: Primary hyperparathyroidism (pHPT), most commonly caused by solitary parathyroid adenomas, leads to mobilization of calcium and is known to result in nephrolithiasis and osteoporosis. To date, studies of pHPT and cardiovascular risk factors and events have produced discrepant findings, likely due to small sample sizes and enrolling populations with varying disease severity. HYPOTHESIS: We utilized a national registry, hypothesizing an association between pHPT and cardiovascular risk factors and events...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27829958/antioxidant-and-renoprotective-effects-of-mushroom-extract-implication-in-prevention-of-nephrolithiasis
#5
Ariel Schulman, Matthew Chaimowitz, Muhammad Choudhury, Majid Eshghi, Sensuke Konno
BACKGROUND: The pathogenesis of nephrolithiasis (kidney stone) remains elusive, while several therapeutic options are available but not effective as we expected. Accumulating data yet suggest that oxidative stress (generation of oxygen free radicals) may play a primary role in its occurrence. Particularly, calcium oxalate (CaOx) is a key element in the most common form (> 75%) of kidney stones, and its crystal form known as CaOx monohydrate (COM) has been shown to exert oxidative stress, facilitating CaOx stone formation...
December 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27816704/radiology-of-renal-stone-disease
#6
REVIEW
Colin J McCarthy, Vinit Baliyan, Hamed Kordbacheh, Zafar Sajjad, Dushyant Sahani, Avinash Kambadakone
Nephrolithiasis is a common cause of abdominal pain and will affect approximately 1 in 10 people in their lifetime. In the past two decades, there have been several technological advances that have changed the imaging approach to stone diagnosis and follow-up. We present a review of the current imaging evaluation for renal stone disease, and outline how new technology has helped with diagnosis and management.
November 2, 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27811548/current-recommendations-for-treating-autosomal-dominant-polycystic-kidney-disease
#7
Becky Ness, Kathryn Stovall
Autosomal dominant polycystic kidney disease is the most common inherited kidney disease in the United States, causing hypertension, cerebral aneurysms, nephrolithiasis, and kidney failure. This article reviews the pathogenesis, diagnosis, associated complications, and current treatment recommendations for the condition.
December 2016: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/27770717/quantitative-uplc-ms-ms-assay-of-urinary-2-8-dihydroxyadenine-for-diagnosis-and-management-of-adenine-phosphoribosyltransferase-deficiency
#8
Margret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, Hrafnhildur L Runolfsdottir, Inger M Sch Agustsdottir, Steinunn Oddsdottir, Baldur B Sigurdsson, Hordur K Hardarson, Nilesh R Kamble, Snorri Th Sigurdsson, Vidar O Edvardsson, Runolfur Palsson
Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates the renal manifestations. Assessment of DHA crystalluria by urine microscopy is used for therapeutic monitoring, but lacks sensitivity. We report a high-throughput assay based on ultra-performance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) for quantification of urinary DHA...
September 14, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/27739473/associations-of-the-calcium-sensing-receptor-gene-casr-rs7652589-snp-with-nephrolithiasis-and-secondary-hyperparathyroidism-in-haemodialysis-patients
#9
Alicja E Grzegorzewska, Mateusz Paciorkowski, Adrianna Mostowska, Bartosz Frycz, Wojciech Warchoł, Ireneusz Stolarek, Marek Figlerowicz, Paweł P Jagodziński
Nephrolithiasis, secondary hyperparathyroidism (sHPT), and cardiovascular complications are associated with disturbances in Ca handling and contribute to morbidity/mortality during haemodialysis (HD). Calcimimetics, activators of the calcium-sensing receptor (CaSR), provide an effective means of reducing parathyroid hormone (PTH) secretion in sHPT. Polymorphism in CaSR gene (CASR) influences Ca-related parameters, however it was not shown in HD patients for CASR rs7652589. The minor allele at this polymorphism modifies the binding sites of transcription factors and CaSR expression...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27721432/infrared-vibrational-spectroscopy-a-rapid-and-novel-diagnostic-and-monitoring-tool-for-cystinuria
#10
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/27711095/metabolic-evaluation-in-patients-with-infected-nephrolithiasis-is-it-necessary
#11
Elisa Cicerello, Mario Mangano, Gian Davide Cova, Franco Merlo, Luigi Maccatrozzo
Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Urinary excretion of citrate was low in both groups without statistically significant difference (238+/-117 mg/24 h vs 214+/-104 mg/24/h, t = 0...
October 5, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/27639704/a-novel-cyp24a1-genotype-associated-to-a-clinical-picture-of-hypercalcemia-nephrolithiasis-and-low-bone-mass
#12
Pietro Manuel Ferraro, Angelo Minucci, Aniello Primiano, Elisa De Paolis, Jacopo Gervasoni, Silvia Persichilli, Alessandro Naticchia, Ettore Capoluongo, Giovanni Gambaro
Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis...
September 17, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27639376/prevalence-of-osteoporosis-in-the-italian-population-and-main-risk-factors-results-of-bonetour-campaign
#13
Loredana Cavalli, Andrea Guazzini, Luisella Cianferotti, Simone Parri, Tiziana Cavalli, Alessia Metozzi, Francesca Giusti, Caterina Fossi, Dennis M Black, Maria Luisa Brandi
BACKGROUND: BoneTour is a campaign conducted throughout the Italian territory for the assessment of Italian people bone status and for the prevention of osteoporosis. METHODS: A total of 7305 sequential subjects of both sexes were screened, collecting clinical data through the FRAX™ questionnaire, and measuring heel bone stiffness by Quantitative Ultrasonography (QUS). The 10-year risk for hip and major osteoporotic fractures was calculated taking into account personal or family history of fragility fracture, smoking, alcohol abuse, rheumatoid arthritis, prolonged steroids assumption...
2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27625318/incidence-and-causes-of-urolithiasis-in-children-between-0-2-years
#14
Erkin Serdaroglu, Mahfuz Aydogan, Kadriye Ozdemir, Mustafa Bak
BACKGROUND: Urolithiasis (UL) is a common problem in pediatric nephrology practice. About 9-23% of all pediatric UL cases consist of patients under 1 years old. The aim of the present study was to determine etiologic causes, clinical features and short term prognosis of urolithiasis in the first two years of life. METHODS: Two-hundred children between 0-2 years of age (mean age 10.3±6.1 months) with urolithiasis were included to the study. All children were completely evaluated for urolithiasis etiology...
September 13, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27609977/nephrolithiasis-among-male-patients-with-newly-diagnosed-gout
#15
K S Wan, C K Liu, M C Ko, W K Lee, C S Huang
INTRODUCTION: An elevated serum urate level is recognised as a cause of gouty arthritis and uric acid stone. The level of serum uric acid that accelerates kidney stone formation, however, has not yet been clarified. This study aimed to find out if a high serum urate level is associated with nephrolithiasis. METHODS: Patients were recruited from the rheumatology clinic of Taipei City Hospital (Renai and Zhongxing branches) in Taiwan from March 2015 to February 2016...
September 9, 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/27588937/vitamin-d-mediated-hypercalcemia-mechanisms-diagnosis-and-treatment
#16
Peter J Tebben, Ravinder J Singh, Rajiv Kumar
Hypercalcemia occurs in up to 4% of the population in association with malignancy, primary hyperparathyroidism, ingestion of excessive calcium and/or vitamin D, ectopic production of 1,25-dihydroxyvitamin D [1,25(OH)2D], and impaired degradation of 1,25(OH)2D. The ingestion of excessive amounts of vitamin D3 (or vitamin D2) results in hypercalcemia and hypercalciuria due to the formation of supraphysiological amounts of 25-hydroxyvitamin D [25(OH)D] that bind to the vitamin D receptor, albeit with lower affinity than the active form of the vitamin, 1,25(OH)2D, and the formation of 5,6-trans 25(OH)D, which binds to the vitamin D receptor more tightly than 25(OH)D...
October 2016: Endocrine Reviews
https://www.readbyqxmd.com/read/27521691/kidney-stone-recurrence-among-children-and-adolescents
#17
Gregory E Tasian, Abdo E Kabarriti, Angela Kalmus, Susan L Furth
PURPOSE: Kidney stone disease has become increasingly common during childhood and adolescence. However, the rate of symptomatic kidney stone recurrence for pediatric patients is uncertain. We sought to determine the recurrence rate of symptomatic kidney stones in a cohort of children with incident symptomatic nephrolithiasis. MATERIALS AND METHODS: We performed a retrospective cohort study of patients 3 to 18 years old without anatomical abnormalities or genetic causes of nephrolithiasis who presented with a first symptomatic kidney stone between 2008 and 2014...
August 10, 2016: Journal of Urology
https://www.readbyqxmd.com/read/27479436/re-prevalence-of-monogenic-causes-in-pediatric-patients-with-nephrolithiasis-or-nephrocalcinosis
#18
Dean G Assimos
No abstract text is available yet for this article.
August 2016: Journal of Urology
https://www.readbyqxmd.com/read/27471596/bilateral-genu-valgum-an-unusual-presentation-of-juvenile-primary-hyperparathyroidism
#19
Shruti Sharma, Sunil Kumar
Primary hyperparathyroidism is a generalized disorder of bone and mineral metabolism caused by autonomous secretion of parathyroid hormone. It is primarily seen in adults with typical age of presentation between third and fifth decades of life. Juvenile hyperparathyroidism is a rare disorder. The common presentations in order of incidence are fatigue and lethargy, headache, nephrolithiasis, nausea, abdominal pain, vomiting and polydipsia. Though skeletal symptoms include bone pains and fractures, but the presence of limb deformity is atypical...
July 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/27468975/acidosis-and-urinary-calcium-excretion-insights-from-genetic-disorders
#20
R Todd Alexander, Emmanuelle Cordat, Régine Chambrey, Henrik Dimke, Dominique Eladari
Metabolic acidosis is associated with increased urinary calcium excretion and related sequelae, including nephrocalcinosis and nephrolithiasis. The increased urinary calcium excretion induced by metabolic acidosis predominantly results from increased mobilization of calcium out of bone and inhibition of calcium transport processes within the renal tubule. The mechanisms whereby acid alters the integrity and stability of bone have been examined extensively in the published literature. Here, after briefly reviewing this literature, we consider the effects of acid on calcium transport in the renal tubule and then discuss why not all gene defects that cause renal tubular acidosis are associated with hypercalciuria and nephrocalcinosis...
December 2016: Journal of the American Society of Nephrology: JASN
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