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Hyperuricosuria

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https://www.readbyqxmd.com/read/28888218/impact-of-non-adherence-on-the-safety-and-efficacy-of-uric-acid-lowering-therapies-in-the-treatment-of-gout
#1
Daniel Hill-McManus, Elena Soto, Scott Marshall, Steven Lane, Dyfrig Hughes
AIMS: Dual-urate lowering therapy (ULT) with xanthine oxidase inhibitor and uricosuric medications is a treatment option for severe gout. Uricosurics can cause hyperuricosuria, a risk factor for nephrolithiasis and acute uric acid nephropathy. The aims of this study were to simulate the relation between suboptimal drug adherence and efficacy, and to quantify the risk of hyperuricosuria in gout patients receiving mono and dual-ULTs. METHODS: The impact of poor medication adherence was studied using 2-compartment PK models based on published evidence and a semi-mechanistic, 4-compartment pharmacodynamic (PD) model...
September 9, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28882031/a-multiregional-italian-cohort-of-24-hour-urine-metabolic-evaluation-in-renal-stone-formers
#2
Francesco Esperto, Martino Marangella, Alberto Trinchieri, Michele Petrarulo, Roberto Miano
BACKGROUND: Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with Lithotest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones...
September 7, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/28782500/unapparent-hypoxanthine-guanine-phosphoribosyltransferase-deficiency
#3
R J Torres, S Puente, A Menendez, N Fernandez-Garcia
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data...
September 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28748117/epidemiology-pathophysiology-and-management-of-uric-acid-urolithiasis-a-narrative-review
#4
REVIEW
A Abou-Elela
An in-depth comprehension of the epidemiology as well as pathophysiology of uric acid urolithiasis is important for the identification, treatment, and prophylaxis of calculi in these patients. Persistently low urinary pH, hyperuricosuria, and low urinary volume are the most important factors in pathogenesis of uric acid urolithiasis. Other various causes of calculus formation comprises of chronic diarrhea, renal hyperuricosuria, insulin resistance, primary gout, extra purine in the diet, neoplastic syndromes, and congenital hyperuricemia...
September 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#5
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28457074/nephrolithiasis-in-israel-epidemiological-characteristics-of-return-patients-in-a-tertiary-care-center
#6
Yasmin Abu-Ghanem, Nir Kleinmann, Harry Z Winkler, Dorit E Zilberman
BACKGROUND: The prevalence and etiology of nephrolithiasis vary, depending on geography, gender and ethnicity. OBJECTIVES: To analyze the demographic data of return nephrolithiasis patients in a tertiary care center. METHODS: We retrospectively reviewed our prospective registry database of return patients seen at our outpatient clinic for nephrolithiasis. Data included gender, age at first visit, age at first stone event, body mass index (BMI), self-reported hypertension, diabetes mellitus (DM), and hyperlipidemia...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28220601/multiple-sclerosis-and-nephrolithiasis-a-matched-case-comparative-study
#7
Vishnu Ganesan, Wen Min Chen, Rajat Jain, Shubha De, Manoj Monga
OBJECTIVE: To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation. PATIENTS AND METHODS: In this retrospective case-control study, we identified patients diagnosed with MS and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to two controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index, and sex...
June 2017: BJU International
https://www.readbyqxmd.com/read/28178975/evaluation-of-dogs-with-genetic-hyperuricosuria-and-urate-urolithiasis-consuming-a-purine-restricted-diet-a-pilot-study
#8
Jodi L Westropp, Jennifer A Larsen, Eric G Johnson, Dannika Bannasch, Andrea J Fascetti, Vincent Biourge, Yann Queau
BACKGROUND: Urate urolithiasis is a common problem in breed homozygous for the mutation that results in hyperuricosuria. Low purine diets have been recommended to reduce purine intake in these dogs. METHODS: A higher protein, purine restricted diet with water added was evaluated in dogs with genetic hyperuricosuria and a history of clinical urate urolithiasis over a one year time period. Dogs were evaluated at baseline and 2, 6, and 12 months after initiating the test diet...
February 8, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/27959841/kidney-stones-composition-frequency-and-relation-to-metabolic-diagnosis
#9
Francisco R Spivacow, Elisa E Del Valle, Ernesto Lores, Paula G Rey
Nephrolithiasis is one of the most frequent urologic diseases. The aim of this paper is to study the composition and frequency of 8854 patient kidney stones and in a subset of them their metabolic risk factors to be related to their type of calculi. Physicochemical and crystallographic methods were used to assess kidney stone composition. In a subset of 715 patients, we performed an ambulatory metabolic protocol with diagnostic purposes. From the total sample 79% of stones were made of calcium salts (oxalate and phosphate), followed by uric acid stones in 16...
2016: Medicina
https://www.readbyqxmd.com/read/27865972/paediatric-urolithiasis-in-emerging-economies
#10
REVIEW
S Adibul Hasan Rizvi, Sajid Sultan, Mirza Naqi Zafar, Bashir Ahmed, Sadaf Aba Umer, S A Anwar Naqvi
BACKGROUND: Paediatric urolithiasis remains endemic in low resource countries. This review highlights the epidemiology, causation and management of urolithiasis in an Asian country in the context of emerging economies. METHODS: A literature review of recent articles with key words paediatric urolithiasis, developing countries, endemic stone disease, stone composition, metabolic risk factors, management of paediatric urolithiasis was undertaken and 51 relevant articles were selected with the main focus on experience of this center in managing stone disease in the last two decades...
December 2016: International Journal of Surgery
https://www.readbyqxmd.com/read/27744630/metabolic-risk-factors-in-pediatric-stone-formers-a-report-from-an-emerging-economy
#11
Kiran Imran, Mirza Naqi Zafar, Uzma Ozair, Sadia Khan, Syed Adibul Hasan Rizvi
The goal of this study was to investigate metabolic risk factors in pediatric stone formers in an emerging economy. A prospective, data collection enrolled 250 children age <1-15 years at our center. Risk factors were evaluated by gender and in age groups <1-5, 6-10 and 11-15 years. Patients were evaluated for demographics, blood and 24 h urine for calcium, magnesium, phosphate, uric acid, electrolytes and additional protein, citrate, ammonia and oxalate in urine. All reported values were two sided and statistical significance was considered at p value ≤0...
August 2017: Urolithiasis
https://www.readbyqxmd.com/read/27711095/metabolic-evaluation-in-patients-with-infected-nephrolithiasis-is-it-necessary
#12
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/27525650/genetic-panel-screening-of-nearly-100-mutations-reveals-new-insights-into-the-breed-distribution-of-risk-variants-for-canine-hereditary-disorders
#13
Jonas Donner, Maria Kaukonen, Heidi Anderson, Fredrik Möller, Kaisa Kyöstilä, Satu Sankari, Marjo Hytönen, Urs Giger, Hannes Lohi
BACKGROUND: The growing number of identified genetic disease risk variants across dog breeds challenges the current state-of-the-art of population screening, veterinary molecular diagnostics, and genetic counseling. Multiplex screening of such variants is now technologically feasible, but its practical potential as a supportive tool for canine breeding, disease diagnostics, pet care, and genetics research is still unexplored. RESULTS: To demonstrate the utility of comprehensive genetic panel screening, we tested nearly 7000 dogs representing around 230 breeds for 93 disease-associated variants using a custom-designed genotyping microarray (the MyDogDNA® panel test)...
2016: PloS One
https://www.readbyqxmd.com/read/27510800/metabolic-disturbances-in-chinese-children-with-urolithiasis-a-single-center-report
#14
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/27408343/fanconi-syndrome-a-rare-initial-presentation-of-acute-lymphoblastic-leukemia
#15
Kamal Kant Sahu, Arjun Datt Law, Nidhi Jain, Alka Khadwal, Vikas Suri, Pankaj Malhotra, Subhash Chander Varma
A-14-year old boy, presented with a short history of excessive thirst and increased urine output. Clinical examination showed pallor, generalized lymphadenopathy and hepatosplenomegaly. For evaluation of his polyuric state he underwent routine laboratory investigations, including renal function test, acid-base studies, urine analysis. Blood tests suggested hypokalemia, hypouricemia, hypocalcemia and hyperchloremia with normal liver and kidney function tests. The arterial blood gas analysis was suggestive of normal anion gap metabolic acidosis...
June 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27286123/are-patients-with-lichen-planus-really-prone-to-urolithiasis-lichen-planus-and-urolithiasis
#16
Ural Oguz, Zennure Takci, Isil Deniz Oguz, Berkan Resorlu, Ilknur Balta, Ali Unsal
PURPOSE: to investigate whether patients with lichen planus (LP) are really prone to urolithiasis or not. PATIENTS AND METHODS: We performed a prospective analysis of 40 patients diagnosed with lichen planus (LP) (group I), and 40 volunteers did not have LP before (group II). Participants were all checked for urolithiasis by radiological investigations. Blood samples were analyzed for biochemistry parameters including calcium and uric acid. 24-h urine samples were analyzed to investigate oxalate, citrate calcium, uric acid, magnesium, sodium and creatinine...
May 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27098938/metabolic-features-and-renal-outcomes-of-urolithiasis-in-children
#17
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/26959969/use-of-urinary-concentrations-in-mg-dl-in-relation-to-absolute-values-in-24-hour-samples-for-the-evaluation-of-lithogenic-factors-in-stone-forming-patients
#18
M A Arrabal-Polo, M C Cano-García, G Hidalgo-Agullo, L Roletto-Salmo
OBJECTIVE: The aim of this study is to analyze urine concentrations (mg/dl) of different lithogenic factors in a sample of 24 h as a predictor of these changes rather than absolute values depend on the volume of diuresis. METHODS: A total of 131 patients from the North Almeria Health Management Area (Spain) with urinary calstone disease in whom a metabolic study was indicated were included from June 2014 to May 2015. The concentrations of calcium, oxalate, uric acid, citrate and magnesium were measured in the urine, and the calcium/citrate ratio was calculated...
March 2016: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/26913725/metabolic-risk-factors-in-children-with-asymptomatic-hematuria
#19
Francisco Rodolfo Spivacow, Elisa Elena Del Valle, Paula Gabriela Rey
BACKGROUND: Idiopathic or benign hematuria is diagnosed in children after all other possible causes have been ruled out and test results for renal or urologic pathologies are negative. METHODS: To identify possible urinary risk factors for hematuria in children, we retrospectively evaluated clinical onset, family history, and metabolic risk factors of 60 children with idiopathic hematuria but without renal stones or other pathologic conditions that could explain the hematuria...
July 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/26820845/the-association-of-hypercalciuria-and-hyperuricosuria-with-vesicoureteral-reflux-in-children
#20
Abolfazl Mahyar, Reza Dalirani, Parviz Ayazi, Samaneh Hamzehloo, Seyed Alireza Moshiri, Negin Khoshbakht Ahmadi, Sara Talebi Pour Nikoo, Zohreh Yazdi, Shiva Esmaeily
OBJECTIVES: One of the important complications of vesicoureteral reflux (VUR) is the development of urolithiasis. Identifying factors involved in development of urolithiasis in children with VUR is immensely important. This study was conducted to determine the association between hypercalciuria and hyperuricosuria with VUR in children. METHODS: One-hundred children with VUR (case group) were compared to 100 healthy children (control group) in terms of hypercalciuria and hyperuricosuria...
February 2017: Clinical and Experimental Nephrology
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