Academic literature on the topic 'Nefrolitiasi'

La nefrolitiasi è una malattia cronica e recidivante che interessa dal 6% al 10% della popolazione generale. Esiste un'associazione diretta tra difetti di acidificazione tubulare nefrolitiasi e nefrocalcinosi. L'acidosi tubulare determina ipercalciuria ed ipocitraturia, fattori che insieme al pH urinario alcalino favoriscono la precipitazione di cristalli di fosfato di calcio. I difetti di acidificazione possono essere secondari a numerose patologie ma anche essere di natura iatrogena. Sono numerosi i farmaci noti e meno noti che possono determinare un quadro simile all'acidosi tubulare renale distale (ATRd) incompleta. È pertanto doveroso sospettare di fronte ad un soggetto con nefrolitiasi e/o microcalcificazioni la presenza di un disturbo tubulare primitivo o secondario.

La sindrome metabolica è un fattore di rischio per nefrolitiasi. Questo studio è stato effettuato per valutare il profilo clinico e biochimico di pazienti con nefrolitiasi recidivante da ossalato di calcio e sindrome metabolica. Sono stati arruolati un totale di 526 calcolotici, 184 dei quali con sindrome metabolica, e 214 controlli. I calcolotici con sindrome metabolica hanno mostrato un'escrezione di sodio superiore [media (95% intervallo di confidenza), 196 (176-218) vs 160 (150-168) mmol/24h; p

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Esta tese foi realizada segundo recomendação adotada recentemente pelo Programa de Pós-Graduação em Nutrição sendo composta pela revisão da literatura acerca da doença LITÍASE RENAL e a elaboração de 03 (três) artigos para publicação: o primeiro, intitulado Nutrientes, Líquidos e Fibras na Formação de Cálculos Renais, já publicado na Revista Brasileira de Nutrição Clínica, vol. 18, nº 3, Julho-Setembro 2003, onde foram apresentados todos os fatores dietéticos considerados de risco e suas ações na origem dos cálculos renais. O segundo, Hipercalciúria Idiopática Relato de Caso, já enviado à Revista Nutrição Brasil para publicação, onde se discutiu um caso clínico com diagnóstico confirmado de Hipercalciúria Renal e Hiperuricosúria pelo Serviço Médico do Projeto Multicêntrico de Litíase MULTILIT, enfoca os procedimentos médicos e nutricionais nas alterações metabólicas, como também, o seguimento e resultados da intervenção utilizada. E finalmente, o terceiro, de caráter experimental, intitulado Fatores Dietéticos de Risco Presentes na Dieta de Indivíduos Litiásicos e Normais, cujo objetivo foi analisar os teores de nutrientes consumidos por pacientes e indivíduos saudáveis e identificar possíveis desvios capazes de contribuírem para as alterações metabólicas que favorecem a litogênese. Constitui um estudo comparativo entre indivíduos doentes (litiásicos) e normais, para identificar o papel dos fatores nutricionais, especialmente da proteína de origem animal, purina, cálcio e carboidratos refinados diretamente associados à formação de cálculos e presentes no consumo alimentar dos dois grupos

El ejercicio físico intenso y prolongado es uno de los principales factores de estrés físico alos que puede verse sometido el organismo, siendo por ello causa de importantes alteraciones de lahomeostasis. En tales circunstancias, los diferentes aparatos y sistemas del organismo sufren laspertinentes modificaciones funcionales con el fin de mantener la constancia del medio interno. Elriñón, ante los cambios producidos responde con la formación de un orina por lo general escasa,concentrada, ácida, y con una composición de solutos y un sedimento urinarios bastante diferentes alos encontrados en condiciones de reposo. La cuestión es si una orina con estas característicasfavorece el proceso de la litogénesis y a la vez, si este proceso está o no aumentado durante las horasy días siguientes a la finalización del ejercicio físico.El presente estudio ha sido realizado sobre una muestra total de 35 sujetos varones, todosellos deportistas entrenados, sin antecedentes clínicos personales o familiares de nefrolitiasis y queno presentan antecedentes clínicos personales de insuficiencia renal crónica y/o enfermedadesmetabólicas relacionadas directa o indirectamente con la nefrolitiasis. A cada uno de ellos se les harealizado una prueba de esfuerzo con análisis de gases expirados para obtener sus umbralesanaeróbicos (VT2). A su vez, a partir de los datos personales y antropométricos, se les ha instauradouna dieta personalizada, normocalórica y con igual distribución de nutrientes para todos ellos. Cadasujeto ha seguido la dieta como mínimo desde 4 días antes hasta 4 días después de la realización de laprueba de campo, siendo libre en todo momento la ingesta de agua.Dichos sujetos han realizado un ejercicio físico de larga duración (90 minutos), a unaintensidad correspondiente con el VT2 de cada uno de ellos y durante el cual sólo han ingerido aguacorriente "ad libitum". Antes y después del ejercicio han sido pesados y se han obtenido muestras desangre venosa para la determinación de: calcio, fosfato, ácido úrico, citrato, magnesio, zinc, urea,creatinina, sodio, potasio y cloro y de orina para la determinación de: pH, densidad, oxalato, calcio,fosfato, ácido úrico, citrato, magnesio, zinc, creatinina, sodio, potasio y cloro. Asimismo, durante loscuatro días siguientes a su finalización se les ha tomado muestras de orina y datos de su peso corporala las 8 horas y a las 20 horas y también durante los primeros dos días post-esfuerzo se les ha tomadomuestra de sangre venosa a las mismas horas para analizar los parámetros expuestos anteriormente.Para la valoración del riesgo litógeno hemos considerado si el valor de las concentracionesde los parámetros medidos y de los INRILI estaban dentro o fuera del rango de normalidad, si secumplían los criterios de Conte y cols (1999), y/o el valor del criterio escalar.Los resultados obtenidos en este trabajo sugieren que durante el ejercicio físico de altaintensidad y larga duración, y con un grado de deshidratación no superior al 1,6% del peso corporal,no hay un aumento del riesgo litógeno ni de la cristaluria, tanto de forma inmediata como en loscuatro días siguientes a su realización. También parece haber un cierto margen de deshidratación, nosuperior a ese 1,6%, durante el cual las concentraciones séricas de los parámetros analizados ennuestro estudio se mantienen dentro del rango de normalidad. A la vez, los cambios inducidos sobrelas concentraciones urinarias de cualquiera de los parámetros de estudio, ya han revertido a las 24horas después de la finalización del ejercicio.
Long term intense physical exercise is one of the principle factors of physical stress to whichour body can be subjected, causing important alterations of homeostasis. Under suchcircumstances the kidneys respond with changes in the formation of urine which havetraditionally been connected with the appearance of kidney calculus. The question is whetherurine with these characteristics favours the process of lithogenesis and also if this processincreases during the hours or days that follow the cessation of the physical exercise.The present study was carried out on a total of 35 healthy male volunteers. Each one of themwas subjected to a stress test including an analysis of exhaled gases in order to obtain theiranaerobic thresholds (VT2). They were also given a personalised normocaloric diet with anequal distribution of nutrients for each one of them.These individuals performed physical exercise over an extended period (90 minutes), at arate of intensity in accordance with their personal VT2, during which they drank plain water "adlibitum". They were weighed both before and after the exercise and venous blood samples weretaken in order to measure the following: calcium, phosphates, uric acid, citrate, magnesium,zinc, urea, creatinine, sodium, potassium and chlorine. In addition to this, during the two (1)and four (2) days following the exercise, samples of (1) venous blood and (2) urine were takenfrom each person, together with details of their body weight, at 08.00 hours and at 20:00 hours.The results which were obtained from this experiment suggest that during intense exerciseover an extended period and with a degree of dehydration not above 1.6% of the body weight,an increased risk of lithogenesis or of crystalluria does not exist immediately after the exercisenor in the four subsequent days.

El problema planteado en esta investigación es el consumo de agua potable de alta dureza, ¿constituye un factor de riesgo que predispone a la urogénesis de litiasis renal en los habitantes de la ciudad de Malargüe? Los objetivos son: determinar si la ingesta de agua potable de alta dureza es un factor de riesgo predisponente a la urogénesis de litiasis renal en los habitantes de la ciudad de Malargüe, establecer los valores de Ca+ mg/l y la dureza total del agua (Ca CO3mg/l ) de la red, para su comparación con los valores establecidos por el Código Alimentario, OMS y EPAS, describir la prevalencia de litiasis renal por grupo etáreo de la ciudad de Malargüe y comparar el nro. de egresos de pacientes con cálculos renales del Hospital Malargüe con algunos hospitales de la provincia.
Fil: Hernández, Alicia. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Escuela de Enfermería..
Fil: Alcalde, Silvia. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Escuela de Enfermería..
Fil: Astaburuaga, Cecilia. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Escuela de Enfermería..

Kidney stones disease (Nephrolithiasis) is a complex problem of worldwide prevalence that is influenced by both genetic and environmental factors. Kidney stones (KS) are predominantly composed by calcium oxalate (∼65%) but may also contain calcium phosphate (∼10%), uric acid (∼15%), magnesium ammonium phosphate (∼10%), cystine (∼1%), 2,8-dihydroxyadenine (<1%), xanthine (<1%), or excreted drugs such as indinavir (<1%). Stones are formed in the urine as a result of an imbalance in the relative concentration of lithogenic substances such as calcium or oxalate, compared to stone formation inhibitors, such as citrate or magnesium, leading to the precipitation and aggregation of crystals. Therefore, nephrolithiasis is often associated with metabolic abnormalities in urinary solute concentration or decreased urinary solubility; these include hypercalciuria, hyperoxaluria, hypocitraturia, hyperuricosuria, cystinuria, low urinary volume and urinary acidification defects. The etiology of kidney stones and metabolic abnormalities is multifactorial involving genetic and environmental factors. The monogenetic disorders of nephrolithiasis can be classified into two categories which are those associated with calcium containing stones and those which do not contain calcium. We focused our attention on 10 genes associated with calcium-containing stones monogenetic disorders and responsible for the following clinical manifestations: Distal renal tubular acidosis (genes ATP6V1B1-chromosome 2; SLC4A1-chromosome 17; ATP6V0A4-chromosome 7); Hereditary hypophosphatemic rickets with hypercalciuria (genes: XPR1- chromosome 1; SLC34A1-chromosome 5; SLC20A2- chromosome 8; SLC34A3- chromosome 9; SLC9A3R1-chromosome 17); Infantile Hypercalcaemia (genes: SLC34A1; FGF23-chromosome 12; CYP24A1-chromosome 20); Fanconi Syndrome (XPR1). The Incipe cohort (January- 2006) consisted of ~4000 patients all Caucasians, ≥40-years old randomly chosen from the lists of patients of 62 randomly selected general practitioners based in four geographical areas in the Veneto region, NE Italy. Clinical and genetic information were collected from each participant. The clinic of the Incipe Cohort was evaluated with a preliminary descriptive analysis of the variables, considering their distribution, the degree of correlation for the quantitative variables (including glucose, urea, creatinine, uric acid, cholesterol, triglycerides, insulin, albumin, phosphate, potassium, calcium, sodium, chlorine, weight, height) and the chi-squared for the qualitative variables (among these we considered the Kidney Stones variable as our outcome. Answer: YES / NO). The non-parametric Mann-Whitney test for continuous variables allowed us to discriminate the statistically significant variables associated with the kidney stone event. Subsequently these variables have been also evaluated through GLM (Generalized Linear Model) including the most relevant covariates; a nominal p-value ≤ 0.05 was chosen as the cut off. For the candidate gene investigation, on the other hand, the patients were studied with two panels: a sub-cohort of 893 patients (Incipe 1) were analyzed with HumanOmniExpress-12 array (the included genomic probes are scattered across the entire genome sequence); while a sub-cohort of 2153 patients (Incipe 2) were analyzed with Humancoreexome-12v1 (most of the included genomic probes map on exonic regions); both are Illumina technology. Through imputation of the genotype, it was possible to have a dense genetic profile for each individual, that can then was used to search for risk variant associated to kidney stones. For the imputation we used TOPMed (Trans-Omics for Precision Medicine) reference panel that is useful for whole genome sequencing samples. It has the advantage of making full use of key genetic characteristics such as linkage patterns (or the ordering of genes on chromosomes), mutations and recombination hotspots. Since the data were imputed, the association analysis of the single marker was conducted by estimating the relative abundance (parameter DS - Estimate of the alternative dosage), for each genotype, of the alternative allele between cases and controls. DS is the probability of being heterozygous plus the probability of being homozygous dominant or recessive - P (0 | 1) + 2*P (1 | 1). The shrinked t-test was used to test the association of each genetic variant with KS and controlling for multiple testing. The significant risk variants (p- value ≤ 0.05) were also tested GLM including the covariates for KS found in the steps described above, one at a time. The dataset of clinical information of the Incipe cohort is organized in 55 quantitative variables, both discrete and continuous, and 49 qualitative. For the more correlated quantitative variables with KS, a non-parametric test (Mann-Whitney) was applied. The most significant ones were explored with a GLM model that showed a statistically significant p-value for uric acid (0.00209), insulin (0.03596), phosphate (0.02621) and potassium (0.03586). These results confirmed what is already known about the etiology of the pathology. As regards the candidate gene panels, a total of 59,302 variants (assayed or imputed) were studied for the 10 genes under study. Incipe 1 was used to discovery panel and Incipe 2 to replicate the genetic associations. Incipe 1 and Incipe 2 samples were therefore analyzed independently. In both cases, the shrinked t test highlighted variables differentially expressed between the cases (stone formers) and the controls (no stone formers). These significant variants were annotated (this consists in mapping the genes and identifying the biological characteristics of the variants) with Ensembl Vep (hg38) and studied with both simple and multivariate GLM models, thus associating uric acid, insulin, phosphate, and potassium; significant variables resulting from the analysis of the clinical dataset. In Incipe 1, some of the 69 variants found to be significant, have already been described in other studies: 6 variants for ATP6V0A4 gene (according to annotation, 4 variants are related to ammonium metabolism, 1 variant to acidification by the renal tubule and 1 to risk of alcohol addiction), 5 variants for the CYP24A1 gene (all of them already reported in the literature because associated with other phenotypes; 4 concerning the metabolism of vitamin D and 2 associated with hypertension). Also in Incipe 2, some of the 18 significant variants, have already been described in other studies: 1 variant of the SLC34A1 gene (associated to Idiopathic Infantile Hypercalcemia); 1 variant in SLC34A3 gene (associated to hypophosphatemic rickets); 3 variants of the CYP24A1 gene (related to the metabolism of vitamin D). The variants chr20:54171755:C:A and chr20:54173157:G:A, mapping on the gene CYP24A1 are the only two statistically significant in both Incipe 1 and Incipe 2 panels. CYP24A1 is one of the gene involved in the vitamin D pathway; it belongs to hydroxylases from CYP450 family. Both variants were found to be significant with multivariate tests (the risk alleles are the adenines - A - for both variants), associating them with the variables found to be significant in the clinic. Further investigations by genotyping analysis are needed to confirm the results obtained.