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nephrolithiasis causes

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
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
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
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
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
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
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
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
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. MATERIALS AND METHODS: We performed a retrospective cohort study of patients aged 3-18 years without anatomic abnormalities or genetic causes of nephrolithiasis who presented with a first symptomatic kidney stone between 2008 and 2014. We determined recurrence rates of symptomatic nephrolithiasis, defined as a new kidney stone on ultrasound and/or CT associated with pain and/or vomiting...
August 10, 2016: Journal of Urology
Dean G Assimos
No abstract text is available yet for this article.
August 2016: Journal of Urology
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
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...
July 28, 2016: Journal of the American Society of Nephrology: JASN
Smiley Annie George, Sulaiman Al-Rushaidan, Issam Francis, Darius Soonowala, M R Narayanan Nampoory
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder of uric acid metabolism that leads to formation and excretion of 2,8-dihydroxyadenine into urine. The low solubility of 2,8-dihydroxyadenine results in precipitation and formation of urinary crystals and renal stones. Patients with this disorder usually have recurrent nephrolithiasis and can develop nephropathy secondary to crystal precipitation in the renal parenchyma. The disease is most often underdiagnosed and can recur in renal transplant, causing graft failure...
July 22, 2016: Experimental and Clinical Transplantation
Maddalena Gigante, Luisa Santangelo, Sterpeta Diella, Gianluca Caridi, Lucia Argentiero, Maria Michela D''Alessandro, Marida Martino, Emma Diletta Stea, Gianluigi Ardissino, Vincenza Carbone, Silvana Pepe, Domenico Scrutinio, Silvio Maringhini, Gian Marco Ghiggeri, Giuseppe Grandaliano, Mario Giordano, Loreto Gesualdo
BACKGROUND/AIMS: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH)...
2016: Nephron
Petar Bajic, Jessica Wetterlin, Larissa Bresler
Urinary tract fungus balls are a rare pathologic entity which may be asymptomatic or have variable presentations. To date, there have been no documented cases of fungus balls presenting as painful bladder syndrome. Painful bladder syndrome is a constellation of symptoms which may include pelvic pain, urgency and frequency not explained by other causes. Here, we present the first case of these two entities concurrently. Our patient had a longstanding history of diabetes, nephrolithiasis and recurrent urinary tract infections...
May 2016: Current Urology
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
Martino Marangella
Nephrolithiasis (NL) is one of the most prevalent nontransmissible diseases in western countries. It is being associated with other frequent diseases, including osteoporosis, cardiovascular disease, hypertension, diabetes mellitus, through a putative common link with metabolic syndrome and insulin resistance or altered mineral metabolism. This review will focus on classification, physicochemical basis, risk factors, laboratory and imaging investigations, medical management.Classification as to stone composition includes calcium, uric acid (UA), cystine (Cys), infected, 2-8 dihydroxyadenine and rare NL...
September 26, 2016: Urologia
Naile Gokkaya, Adem Gungor, Arzu Bilen, Habib Bilen, Darina Gviniashvili, Yusuf Karadeniz
Primary Hyperparathyroidism (PHP) in pregnancy constitutes a serious danger to mother and fetus. The diagnosis of PHP in pregnancy presents a challenge, and PHP commonly goes unidentified and untreated in pregnancy. We present four case reports about patients having PHP, which is very rare condition in pregnancy and their treatment modalities. Three patients, not to be controlled biochemically, denied the parathyroidectomy operation although they are informed about the details of their disease. They are followed up with medical therapy...
May 31, 2016: Gynecological Endocrinology
Heon Yung Gee, Ikhyun Jun, Daniela A Braun, Jennifer A Lawson, Jan Halbritter, Shirlee Shril, Caleb P Nelson, Weizhen Tan, Deborah Stein, Ari J Wassner, Michael A Ferguson, Zoran Gucev, John A Sayer, Danko Milosevic, Michelle Baum, Velibor Tasic, Min Goo Lee, Friedhelm Hildebrandt
Nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system, affects about 5%-10% of individuals worldwide at some point in their lifetime and results in significant medical costs and morbidity. To date, mutations in more than 30 genes have been described as being associated with nephrolithiasis, and these mutations explain about 15% of kidney stone cases, suggesting that additional nephrolithiasis-associated genes remain to be discovered. To identify additional genes whose mutations are linked to nephrolithiasis, we performed targeted next-generation sequencing of 18 hypothesized candidate genes in 348 unrelated individuals with kidney stones...
June 2, 2016: American Journal of Human Genetics
Jianghui Hou
PURPOSE OF REVIEW: The tight junction conductance made of the claudin-based paracellular channel is important in the regulation of calcium and magnesium reabsorption in the kidney. This review describes recent findings of the structure, the function, and the physiologic regulation of claudin-14, claudin-16, and claudin-19 channels that through protein interactions confer calcium and magnesium permeability to the tight junction. RECENT FINDINGS: Mutations in two tight junction genes - claudin-16 and claudin-19 - cause the inherited renal disorder familial hypomagnesemia with hypercalciuria and nephrocalcinosis...
July 2016: Current Opinion in Nephrology and Hypertension
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