Litiasis renal en niños / Renal lithiasis in children

Resumen Justificación y objetivo: La litiasis renal se debe a la precipitación de cristales por un desequilibrio en la orina entre sustancias promotoras y las sustancias inhibitorias. Es una patología con una prevalencia entre 2-10% en la población pediátrica, con una incidencia que ha aumentado en los últimos 25 años; razón por la cual este estudio pretende conocer la prevalencia, las manifestaciones clínicas y metabólicas de la litiasis renal en la población pediátrica del Hospital Nacional de Niños de Costa Rica. Métodos: Es un estudio retrospectivo, descriptivo y observacional, mediante la revisión de expedientes de pacientes menores a 18 años con el diagnóstico de litiasis renal, atendidos en el Hospital Nacional de Niños, en el periodo comprendido entre enero del año 2000 al 2018. Resultados: Se incluyeron un total de 106 pacientes. El 57,5% hombres, la edad promedio al diagnóstico de 6,6 ± 3,8 años; la frecuencia de casos se ha incrementado en 5,5 veces en los últimos 5 años. Factores de riesgo detectados: anormalidades del tracto urinario 22,6% y antecedentes familiares de litiasis 17,9%. El análisis metabólico mostró un gasto urinario bajo en el 74,3%, hiperfosfaturia en un 43,2%, hipomagnesuria 39,2% e hipercalciuria 37,8%. Etiologías determinadas: metabólica 54,7%, malformaciones de las vías urinarias 16% e idiopática en un 30,9%. La litotricia intracorpórea se aplicó en un 61,2%. La recidiva se observó en el 28,5% de los casos, se encontró relación entre la incidencia de recidiva con el tamaño del lito (p = 0,001) y el tratamiento quirúrgico. (p = 0,010). Conclusiones: Existe un aumento en la frecuencia de casos de litiasis pediátrica con una etiología multifactorial en el Hospital Nacional de Niños de Costa Rica.

Abstract Background and aim: Renal lithiasis is due to the precipitation of crystals due to an imbalance in the urine between promoter substances and inhibitory substances. It is a pathology with a prevalence between 2-10% in the pediatric population, with an incidence that is increasing in the last 25 years, because of that, this study pretend to know the prevalence, the clinical and metabolic, manifestation of the renal lithiasis in the pediatric population. Methods: It is a retrospective, descriptive and observational study, by reviewing records of patients under 18 years of age with a diagnosis of renal lithiasis, treated at the Hospital Nacional de Niños, in the period of 2000 to 2018. Results: A total of 106 patients were included, 57,5% men, the average age at diagnosis of 6,6+- 3,8 years, the frequency of cases has increased 5,5 times in the last 5 years. Risk factors detected: urinary trac abnormalities 22,6% and family history of nephrolithiasis 17,9%. The metabolic analysis showed a low urinary flow rate in 74,3%, hyperphosphaturia in 43,2%, hypomagnesuria 39,2% and hypercalciuria 37,8%. Etiologies determined: metabolic 54,7%, malformations of the urinary trac 16% and idiopathic in 30,9%. Intracorporeal lithotripsy was applied in 61,2%. Recurrence was observe in 28,5 % of cases, a relationship was found between the incidence of recurrence with the size of litho (p= 0.001) and surgical treatment (p= 0.01). Conclusions: There is a significant increase in the incidence of pediatric lithiasis cases with a multifactorial etiology.

Aspectos clínicos, epidemiológicos y terapéuticos en niños y adolescentes con hipercalciuria idiopática / Clinical, epidemiological and therapeutic aspects in children and adolescents with idiopathic hypercalciuria

Introducción: La hipercalciuria idiopática es un trastorno metabólico frecuente y poco reconocido, cuyo curso clínico depende en gran medida de cambios en los hábitos dietéticos desde la infancia. Objetivo: Caracterizar a niños y adolescentes con hipercalciuria idiopática según variables clínicas, epidemiológicas y terapéuticas. Métodos: Se realizó una investigación observacional, longitudinal y prospectiva de 44 pacientes con hipercalciuria idiopática, atendidos en el Servicio de Miscelánea del Hospital Pediátrico Docente Sur Antonio María Béguez César de Santiago de Cuba, desde enero de 2014 hasta diciembre de 2015. Resultados: Las formas sintomáticas de la enfermedad resultaron ser las más frecuentes (68,2 %); asimismo, predominó el sexo masculino (72,7 %) y el promedio de edad fue de 7,2 ± 4 años. Existió asociación estadística entre las edades preescolar y escolar en cuanto al diagnóstico de hipercalciuria idiopática. La hematuria macroscópica recurrente fue el síntoma más usual en la mayoría de los casos (59,1 %); en tanto, 25,0 % de los pacientes presentó litiasis renal y el tratamiento no farmacológico a base de líquidos y dieta se relacionó con una evolución satisfactoria en 68,2 % de los afectados, a pesar de que el restante 31,8 % necesitó tratamiento medicamentoso. Conclusiones: Las características clínicas y epidemiológicas de los pacientes con hipercalciuria idiopática de esta casuística no difirieron de las registradas a nivel mundial, considerando que este trastorno metabólico es relativamente frecuente en los servicios de pediatría.

Introduction: The idiopathic hypercalciuria is a frequent and not very recognized metabolic disorder which clinical course depends in great extent on changes in the dietary habits from the childhood. Objective: To characterize children and adolescents with idiopathic hypercalciuria according to the clinical, epidemiological and therapeutic variables. Methods: An observational, longitudinal and prospective investigation was carried out in 44 patients with idiopathic hypercalciuria, assisted in the Miscellaneous Service of Antonio María Béguez Cesar Southern Teaching Children Hospital in Santiago de Cuba, from January, 2014 to December, 2015. Results: The symptomatic forms of the disease were the most frequent (68.2 %); also, the male sex prevailed (72.7 %) and the average age was 7.2 ± 4 years. Statistical association existed among the preschool and school ages as for the diagnosis of idiopathic hypercalciuria. The recurrent macroscopic hematuria was the most usual symptom in the majority of cases (59.1 %); as long as, the 25.0 % of patients presented renal lithiasis and the diet and liquids-based non pharmacological treatment was associated with a satisfactory evolution in 68.2 % of the affected patients, although the remaining 31.8 % needed drugs treatment. Conclusions: The clinical and epidemiological characteristics of patients with idiopathic hypercalciuria of this case material didn't differ from the ones registered worldwide, taking into account that this metabolic disorder is relatively frequent in pediatric services.

Renal manifestations of sarcoidosis: from accurate diagnosis to specific treatment

ABSTRACT Sarcoidosis is a multisystem granulomatous disease characterized by epithelioid noncaseating granulomas associated with clinical and radiologic findings. The cause of this disease is still uncertain. Sarcoidosis affects mostly lungs and lymph nodes and is not usually considered a urological disease, therefore, this etiology may be overlooked in several urological disorders, such as hypercalcemia, hypercalciuria and nephrolithiasis. It affects all races and genders. This review aims to describe the urological manifestations of sarcoidosis and to elucidate how the disease may affect the management of numerous urological conditions.

Riñón en esponja y litiasis renal / Sponge kidney and renal lithiasis

Introducción: El riñón en esponja es una malformación renal, de los túbulos colectores, que se suele asociar a nefrocalcinosis o acidosis tubular distal. La asociación con la litiasis renal se observa entre un 4-20%. Objetivo: El objetivo de nuestro trabajo fue describir factores de riesgo bioquímicos para litiasis renales, en pacientes con riñón en esponja. Material y métodos: Se realizó un estudio retrospectivo, observacional de corte, entre los años 2000 y 2017 en donde se estudiaron 37 pacientes con riñón en esponja y litiasis renal (26 mujeres y 11 hombres) de 37.3 ± 13.2 años. El diagnóstico de riñón en esponja se hizo mediante urograma excretor. Resultados: Fue observada nefrocalcinosis en el 95%. El diagnóstico bioquímico más frecuente fue la hipercalciuria idiopática que como única y asociada alteración se observó en el 59.4%. La hiperuricosuria fue el segundo diagnóstico encontrado en el 32.4% (única y asociada) seguido por la, hipocitraturia, hipomagnesuria y el pHu persistentemente ácido. En los hombres llamó la atención que un 46.2% no presentaron alteración bioquímica. Conclusiones: En conclusión se destaca la asociación relativamente frecuente de riñón en esponja y litiasis renal. La hipercalciuria idiopática fue la alteración metabólica más frecuente como causa de litogénesis, seguida por la hiperuricosuria, similar a lo descripto en la literatura, aunque en menor proporción. Otras alteraciones, como la hipocitraturia, hipomagnesuria y pHu persistentemente ácido también deben ser consideradas en el estudio de estos pacientes.

Introduction: Sponge kidney is a renal malformation of the collecting tubules, which is usually associated with nephrocalcinosis or distal tubular acidosis. The association with renal lithiasis is observed between 4-20%. Objective: The aim of our work was to describe the biochemical risk factors of renal lithiasis in patients with sponge kidney. Methods: A retrospective, observational, cross-sectional study was conducted between 2000 and 2017, in which 37 patients with sponge kidney and renal lithiasis (26 women and 11 men), aged 37.3 ± 13.2 years, were studied. The diagnosis of sponge kidney was made by excretory urography. Results: Nephrocalcinosis was observed in 95% of patients. The most frequent biochemical diagnosis was idiopathic hypercalciuria, which was observed, as a single and associated alteration, in 59.4% of cases. Hyperuricosuria was the second diagnosis found in 32.4% (single and associated) followed by hypocitraturia, hypomagnesuria and persistently acid pHu. Surprisingly, 46.2% of men presented no biochemical alteration. Conclusions: Our findings highlight the relatively frequent association of sponge kidney and renal lithiasis. Idiopathic hypercalciuria was the most common metabolic alteration as the cause of lithogenesis, followed by hyperuricosuria, similar to that described in the literature, but to a lesser extent. Other alterations, such as hypocitraturia, hypomagnesuria and persistently acid pHu, should also be considered in the study of these patients.

Respuesta de la calciuria a suplementos de vitamina D / Calcium response to vitamin D supplementation

Múltiples estudios muestran la importancia de mantener niveles suficientes de vitamina D para prevenir varias enfermedades crónicas. Sin embargo, la suplementación de vitamina D sobre la calciuria es controvertida. El objetivo de este trabajo prospectivo, intervencionista, fue evaluar la respuesta de la calciuria en mujeres con hipercalciuria y normocalciuria, luego de conseguir niveles adecuados de 25 OH D. Se estudiaron 63 mujeres con hipercalciuria idiopática (9 con litiasis renal) y 50 mujeres normocalciúricas. Ambos grupos presentaron déficit/insuficiencia de 25 OH D y fueron suplementadas con vitamina D2 o D3 semanales o vitamina D3 en dosis de 100 000 UI mensuales. A todas se les midió la calciuria basal y final al alcanzar el valor de 25 OH D deseado (> 30 ng/dl). No observamos cambios significativos en los valores de la calciuria inicial y final en las que recibieron vitamina D2 o D3 semanal ni en las que recibieron dosis mensuales. Sin embargo, un subgrupo de mujeres: 19% (n = 12) de las hipercalciúricas y 12% (n = 6) de las normocalciúricas (con vitamina D semanal) aumentaron la calciuria en forma significativa. Mientras que, con dosis mensuales, un 40% (n = 4/10) de las hipercalciúricas y 44% (n = 4/9) de las hipercalciúricas con litiasis renal aumentaron la calciuria. En conclusión, niveles adecuados de 25 OH D son seguros en la mayoría de las pacientes. En aquellas que requieren dosis de carga mensuales podrían observarse aumentos de la calciuria en forma significativa con riesgo de formar cálculos renales o perder masa ósea, cuando están genéticamente predispuestas.

Several studies show the importance of serum vitamin D sufficient levels to prevent multiple chronic diseases. However, vitamin D supplementation and its effects on urine calcium excretion remain controversial. The objective of this prospective and interventional study was to evaluate urine calcium excretion in women with normal calciuria or hypercalciuria, once serum vitamin D sufficiency was achieved. We studied 63 women with idiopathic hypercalciuria, (9 with renal lithiasis) and 50 normocalciuric women. Both groups had serum vitamin D levels low (deficiency or insufficiency). Baseline urine calcium excretion was measured before being supplemented with vitamin D2 or D3 weekly or vitamin D3 100.000 IU monthly. Once serum vitamin D levels were corrected achieving at least 30 ng/ml, a second urine calcium excretion was obtained. Although in the whole sample we did not observe significant changes in urine calcium excretion according to the way of supplementation, some of those with weekly supplementation had significant higher urine calcium excretion, 19% (n = 12) of hypercalciuric women and 12% (n = 6) of the normocalciuric group. Monthly doses, also showed higher urine calcium excretion in 40% of hypercalciuric women (n = 4/10) and in 44% (n = 4/9) of the renal lithiasis hypercalciuric patients. In conclusion, different ways of vitamin D supplementation and adequate serum levels are safe in most patients, although it should be taken into account a subgroup, mainly with monthly loading doses, that could increase the calciuria significantly eventually rising renal lithiasis risk or bone mass loss, if genetically predisposed.

Índice calcio-creatinina en una muestra matutina de orina para la estimación de hipercalciuria asociada con hematuria no glomerular observada en las edades infanto-juveniles / Calcium-creatinine ratio in a morning urine sample for the estimation of hypercalciuria associated with non-glomerular hematuria observed in children and adolescents

Resumen Introducción: La hipercalciuria suele revelarse durante el diagnóstico diferencial de la hematuria que acompaña a la litiasis renal. La exactitud diagnóstica de la excreción urinaria de calcio puede afectarse por las insuficiencias asociadas con la colección de orina de 24 horas. En este estudio se evaluó la utilidad diagnóstica del índice calcio/creatinina (ICaCre) en la estimación de la hipercalciuria asociada con hematuria y litiasis renal. Método: Se calculó el ICaCre de las concentraciones urinarias de calcio (mmol/l) y creatinina (µmol/l) en una alícuota de colección de 24 horas de orina en 169 niños y adolescentes atendidos por hematuria no glomerular (HNG) o litiasis renal (LR). La calciuria de 24 horas > 4.0 mg/kg en 24 horas se distribuyó según la presencia de HNG o LR. Resultados: El ICaCre promedio fue de 0.2 ± 0.1 mg/mg. La excreción urinaria de calcio estimada del ICaCre fue significativamente superior a la obtenida en colección de orina de 24 horas (p < 0.05). Los métodos de determinación de la calciuria concordaron en la frecuencia de hipercalciuria (ICaCre 39.5% vs. colección de 24 horas 32.1%; p > 0.05). Según la presencia de HNG o LR, la hipercalciuria se distribuyó de la siguiente manera: no HNG + no LR: 59%; no HNG + LR: 60% (diferencia: +1.0%); HNG + no LR: 68.2% (diferencia: +9.2%); HNG + LR: 73.3% (diferencia: +14.4%). Conclusiones: El ICaCre para estimar la excreción urinaria de calcio puede ser efectivo en el estudio de la hipercalciuria asociada con HNG y LR.

Abstract Background: Hypercalciuria might be revealed during the differential diagnosis of hematuria accompanying renal lithiasis (RL). In spite of this, diagnostic accuracy of calcium urinary excretion might be affected by incomplete 24-hour urine collections. In the present study, the diagnostic utility of calcium/creatinine (ICaCre) index for determining hypercalciuria associated with non-glomerular hematuria (NGH) and RL was assessed. Method: ICaCre (mg/mg) index was calculated from calcium (mmol/l) and creatinine (µmol/l) concentrations in an aliquot from a 24-hour urine collection in 169 children and adolescents with NGH or RL. Calciuria values > 4.0 mg/kg in 24 hours were distributed according to the presence of NGH or RL. Results: Mean ICaCre index was 0.2 ± 0.1 mg/mg. Calciuria values estimated from ICaCre were statistically higher to those from 24-hour urine collection (p < 0.05). The frequency of hypercalciuria was independent from the measurement method (estimated from ICaCre 39.5% vs. 24 h collection 32.1%; p > 0.05). Hypercalciuria distribution was as follows: no NGH + no RL: 59.0%; no NGH + RL: 60.0% (∆ = +1.0%); NGH + no RL: 68.2% (∆ = +9.2%); NGH + RL: 73.3% (∆ = +14.4%). Conclusions: The use of ICaCre index for determining calcium urine excretion might be effective in the study of hypercalciuria associated with NGH and RL.

Índice calcio creatinina en el diagnóstico de la hipercalciuria en población pediátrica litiásica / Calcium Creatinine Ratio in the Diagnosis of Hypercalciuria in Gallstone Pediatric Population

INTRODUCCIÓN: la hipercalciuria constituye el principal trastorno metabólico en la litiasis urinaria. Su diagnóstico implica recolección de orina de 24 horas con riesgo de errores y se ha utilizado el índice calcio creatinina como marcador de hipercalciuria. OBJETIVOS: determinar la validez de este indicador como marcador de hipercalciuria. MÉTODOS: se realizó un estudio descriptivo, transversal por la importancia del diagnóstico de la hipercalciuria y los desacuerdos en la utilidad del índice calcio creatinina y su punto de corte óptimo. Se estudiaron 1603 sujetos litiásicos cubanos entre 2 y 19 años, a los que se les mensuró calciuria de 24 horas e índice calcio creatinina de la segunda orina de la mañana. RESULTADOS: se obtuvo correlación positiva moderada entre las variables. Para los valores de corte tradicionales del índice calcio creatinina, la sensibilidad fue 95,7 % y 81,9 %, y la especificidad 48,3 % y 66,7 %, para niños y adolescentes, respectivamente. CONCLUSIONES: el índice calcio creatinina es útil como prueba de despistaje poblacional de hipercalciuria, sin embargo para la confirmación diagnóstica se requiere ineludiblemente la mensuración de la calciuria por recolección de orina de 24 horas.

INTRODUCTION: hypercalciuria is the main metabolic disorder in urolithiasis. Diagnosis involves collecting urine for 24 hours with risk of errors and calcium creatinine ratio has been used as a marker of hypercalciuria. OBJECTIVES: determine the validity of this indicator as a hypercalciuria marker. METHODS: a cross-sectional descriptive study was conducted due to the importance of the diagnosis of hypercalciuria and disagreements on the utility of calcium creatinine ratio and optimal cutoff. 1603 Cuban lithiasic subjects were studied. Their age ranged between 2 and 19 years. 24 hour urinary calcium and calcium- creatinine ratio of the second morning urine were studied. RESULTS: moderate positive correlation between variables was obtained. For values of traditional cutting of calcium creatinine ratio, sensitivity was 95.7% and 81.9%, and specificity 48.3% and 66.7% for children and adolescents, respectively. CONCLUSIONS: calcium creatinine ratio is useful as evidence of population screening for hypercalciuria, however for diagnostic confirmation the measurement of urinary calcium is inevitably required by collecting urine for 24 hours.

Investigação de nefrolitíase no Oeste do Paraná / Investigation of nephrolithiasis in the West of Paraná

INTRODUÇÃO: Nefrolitíase é comum e tem alta taxa de recorrência. OBJETIVOS: Avaliar a prevalência das principais alterações metabólicas e anatômicas e a análise química do cálculo encontrado em pacientes com nefrolitíase na região Oeste do Paraná. MÉTODOS: Foi realizado um estudo retrospectivo em 681 pacientes adultos com nefrolitíase. A investigação laboratorial incluiu pelo menos duas amostras de urina de 24 horas, com dosagens de cálcio, ácido úrico, citrato, oxalato, sódio e creatinina; cistinúria qualitativa, pH urinário após 12 horas de jejum e restrição hídrica, urocultura e análise química do cálculo, quando disponível. Técnicas de imagem renal incluíram pelo menos ultrassonografia e urografia excretora. RESULTADOS: As alterações metabólicas mais frequentemente encontradas foram: hipercalciúria (51,8 por cento), hiperuricosúria (27,6 por cento) e hipocitratúria (23,5 por cento). A análise química dos cálculos mostrou oxalato de cálcio em 85,7 por cento dos casos. As alterações anatômicas mais frequentes foram: cisto renal, duplicação pieloureteral e obstrução da junção pieloureteral. CONCLUSÕES: Este trabalho serviu de base para o conhecimento das características de pacientes com nefrolitíase na região Oeste do Paraná.

INTRODUCTION: Nephrolithiasis is com>mon and has a high rate of recurrence. OBJECTIVES: To assess the prevalence of the main metabolic and anatomical changes and the chemical analysis of stone found in patients with nephrolithiasis in the West region of Paraná. METHODS: Retrospective study with 681 adult patients with nephrolithiasis. The laboratory investigation included at least two samples of 24-hour urine test with doses of calcium, uric acid, citrate, oxalate, sodium and creatinine; qualitative cystinuria, urinary pH following 12-hour fast and water restriction, urine culture and chemical analysis, when the stones were available. Renal imaging techniques included at least renal ultrasound and excretory urogram. RESULTS: The metabolic changes most frequently found were: hypercalciuria (51.8 percent), hyperuricosuria (27.6 percent), and hypocitraturia (23.5 percent). Chemical analysis of stones showed calcium oxa late in 85.7 percent of the cases. The most frequently anatomical changes were renal cyst, duplicated ureter, and ureteropelvic junction obstruction. CONCLUSIONS: This paper served as a base for knowing the characteristics of patients with nephrolithiasis in the West area of Paraná.

Comparison of quality of life between hemodialysis patients waiting and not waiting for kidney transplant from a poor region of Brazil / Comparação da qualidade de vida entre pacientes em hemodiálise aguardando e não aguardando transplante renal em uma região pobre do Brasil

INTRODUCTION: There are few data about the quality of life (QOL) level among patients undergoing hemodialysis (HD) and not eligible for kidney transplant. OBJECTIVE: The QOL level was compared between HD patients waiting and not waiting for kidney transplant. METHODS: We included 161 end-stage renal disease patients undergoing HD, during April, 2009. All patients were older than 18 years old, had been on HD at least three months, and had no previous transplantation. To measure QOL, the SF-36 was used. We also collected data about death and transplants in the 12 months after April, 2009. QOL scores were compared by analysis of variance with covariates. RESULTS: Patients not awaiting transplantation were older (53.7 versus 36.3 years old; p < 0.001), more often had diabetes (15.8 versus 4.7 percent; p = 0.032) and hypertension (35.5 versus 12.9 percent; p < 0.001), and had no lupus (0 versus 4.7 percent; p = 0.001). They also presented lower creatinine levels (11.5 versus 13.5 mg/dL; p = 0.001) and were submitted to a lower dose of dialysis, estimated by Kt/V (1.6 versus 2.0; p = 0.026). Patients not awaiting transplant died more often in the following 12 months (21.1 versus 5.9 percent; p = 0.005). Adjusted mean scores were lower among patients not awaiting transplant regarding six dimensions of QOL: functional capacity (42.0 versus 53.4; p = 0.022), physical limitation (29.9 versus 49.2; p = 0.030); pain (45.0 versus 64.0; p = 0.003), social aspects (56.3 versus 75.9; p = 0.003), emotional aspects (45.1 versus 79.0; p = 0.001), and mental health (50.1 versus 64.3; p = 0.004). CONCLUSIONS: Patients undergoing HD and not awaiting transplant are at risk of poor QOL level, mainly regarding role-emotional and role-physical aspects. We recommend psychological approaches and physical rehabilitation for this group of patients.

INTRODUÇÃO: Há pouca informação acerca do nível de qualidade de vida (QV) entre pacientes em hemodiálise (HD) não-elegíveis para transplante renal. OBJETIVO: Foi comparado o nível de QV entre pacientes em HD inscritos e não-inscritos na lista de espera para transplante renal. MÉTODOS: Foram incluídos 161 pacientes portadores de doença renal crônica terminal, mantidos em HD durante abril de 2009, com mais de 18 anos, mais de três meses em HD e sem realização de transplante prévio. Para medida de QV, utilizou-se o SF-36. Também foram coletados dados sobre óbito e transplante ocorridos nos 12 meses seguintes a abril de 2009. As pontuações de QV foram comparadas pela análise de variância com covariáveis. RESULTADOS: Pacientes que não aguardavam transplante eram mais velhos (53,7 versus 36,3 anos; p < 0,001), tinham mais diabetes (15,8 versus 4,7 por cento; p = 0,032) e hipertensão (35,5 versus 12,9 por cento; p < 0,001) e não apresentavam lúpus (0 versus 4,7 por cento; p = 0,001). Esses pacientes também apresentavam creatinina mais baixa (11,5 versus 13,5 mg/dL; p = 0,001) e eram submetidos a menor dose de diálise, estimada pelo Kt/V (1,6 versus 2,0; p = 0,026). Pacientes que não aguardavam transplante evoluíram mais frequentemente para óbito no período de 12 meses (21,1 versus 5,9 por cento; p = 0,005). As médias ajustadas das pontuações foram mais baixas entre os pacientes que não aguardavam transplante em seis dimensões da QV: capacidade funcional (42,0 versus 53,4; p = 0,022); limitação por aspectos físicos (29,9 versus 49,2; p = 0,030); dor (45,0 versus 64,0; p = 0,003); aspectos sociais (56,3 versus 75,9; p = 0,003); limitação por aspectos emocionais (45,1 versus 79,0; p = 0,001) e saúde mental (50,1 versus 64,3; p = 0,004). CONCLUSÕES: Pacientes em HD que não aguardam transplante estão em risco de vivenciar baixa QV, principalmente no que se refere à limitação por aspectos emocionais e físicos...

Hipercalciuria idiopática en el niño / Idiopathic hypercalciuria in children

Con el propósito de facilitar la orientación y el estudio de los pacientes con hematuria macroscópica recurrente o microscópica persistente, dolor abdominal recurrente, disuria, infección urinaria recurrente o litiasis nefrourológica en las que puede estar involucrada la hipercalciuria idiopática, se hace esta presentación de forma sencilla, para que pueda ser empleada por el médico de atención primaria. La hipercalciuria idiopática es tan frecuente que afecta aproximadamente al 10 por ciento de la población y ante sus síntomas que pueden ser muy variados, hay que pensar en esta alteración metabólica hereditaria que es la causa más frecuente de litiasis renal cálcica. En ocasiones con una orientación adecuada y pocos o ningún medicamento se puede evitar que los pacientes desarrollen una litiasis nefrourológica o que la enfermedad litiásica progrese, y a la vez, impedir que estos pacientes, niños principalmente, sean sometidos a investigaciones cruentas...

In order to make possible the orientation and the study of patients presenting with recurrent macroscopic hematuria or persistent microscopic hematuria, recurrent abdominal pain, dysuria, recurrent urinary infection or nephrourologic lithiasis where a idiopathic hypercalciuria could be involved, we make this simple presentation that primary care physician could be used. Idiopathic hypercalciuria is so frequent that involves approximately to 10 percent`of population and in face of its symptoms that could be varied, we must to consider this hereditary metabolic alteration as the more frequent cause of calcium renal lithiasis. Some times with an appropriate orientation and a few or none drug it is possible to avoid that patient develop a nephrourologic lithiasis or that the lithiasis disease be progressive, and at the same time, to prevent that these patients, mainly the children underwent difficult researches...

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of two cases

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive tubular disorder caused by CLDN-16 mutations. CLND-1 6 gene encodes the renal tight junction protein claudin 16 [formerly paracelline-1]. This is an unusual cause of chronic renal failure. Case 1: a 9-month-old girl was hospitalized for urinary tract infection. The systematic renal ultrasound scanning showed a bilateral medullary nephrocalcinosis. The diagnosis hypomagnesemia with hypercalciuria and nephrocalcinosis has been established after a metabolic investigation. The follow up was marked by the deterioration of renal function. Case n°2: A boy with nephrocalcinosis was referred for investigation at the age of 15 months. in his history, he had seizures at the age of 5 days. The family inquiry revealed the same disease in uncle and maternal grandfather. The age of revelation of this disease is relatively early in our patients compared with those reported in the literature. The nephrocalcinosis and deterioration of renal function seems inevitable despite substitution treatment

Idiopathic hypercalciuria in Iranian children

The aim of this study was to determine the prevalence of idiopathic hypercalciuria [IH] in school children in Ahvaz, a city with different ethnic groups located in the Southwest of Iran. In a descriptive cross sectional study from October to December 2006, we determined urinary calcium [UCa] and urinary creatinine [UCr] in the morning urine samples of 500 primary school children. The levels of 24-hour UCa and UCr were measured in these children. Level of 24-hour UCa exceeding 4 mg/kg/day was considered as hypercalciuria, and UCa/UCr ratio exceeding 0.21 [mg/kg] was considered abnormal. Children who had hypercalciuria with a normal concentration of serum Ca were categorized as idiopathic hypercalciuric. Of 500 children aged 6-12 years, 231 were males and 269 females. In the first screening, 64 [12.8%] children [45 males, 19 females] had an abnormal UCa/UCr ratio. But in the end only 15 had the criteria of IH, i.e. the prevalence of IH was 3% [1.8-4.8%, confidence interval of 95%]. The prevalence in females and males was 0.74% and 5.6%, respectively [P= 0.003]. Of these children 10 had hematuria [including 2 cases of gross hematuria], 8 children gave a history of recurrent abdominal pain, 5 children suffered from dysuria and 3 persons had a history of personal or familial urolithiasis The study showed that 3% of primary school children in Ahvaz had IH predisposing to short-term and long-term complications of the disease. IH was significantly more common in boys than in girls

Prevalence and symptoms of idiopathic hypercalciuria in primary school students in Sanandaj

Determination of prevalence rate of idiopathic hypercalciuria [IH] in primary school students in Sanandaj. This was a descriptive-analytic study and included 506 primary school students. First we measured the ratio of urine calcium to urine creatinine [UCa/UCr] as screening test then 24 hour urine calcium of the patients who had UCa/UCr ratio more than 0.2 mg/mg [31 patients] was measured. Those with 24 hours urine calcium of more than 4 mg/kg were regarded hypercalciuric, [3 boys and 12 girls]. Data were introduced into SPSS win soft ware, represented in the form of frequency distribution table and analyzed by means of Chi square and T-tests. 248 patients were female and 258 were male. 32 patients [6.32%], 11 boys and 21 girls had UCa/UCr ratio more than 0.2 mg/mg, but 15 patients [3 boys and 12 girls] had excretion of more than 4mg/kg/day calcium in urine which encompassed 3% of the students [1.2% boys, 4.8% girls]. The results of this study indicated the Incidence of hypercalciuria among student girls was more than that of boys. 95th percentile for urine Ca/Cr is 0.198 for boys and 0.253 for girls. Considering the effect of hypercalciuria on bone density and growth which has more importance in girls, it is recommended to evaluate such effect in a more comprehensive study

Renal stone disease: causes, evaluation and medical treatment / Calculose renal: causas, avaliação e tratamento médico

The purpose of the present review is to provide an update about the most common risk factors or medical conditions associated with renal stone formation, the current methods available for metabolic investigation, dietary recommendations and medical treatment. Laboratory investigation of hypercalciuria, hyperuricosuria, hyperoxaluria, cystinuria, hypocitraturia, renal tubular acidosis, urinary tract infection and reduction of urinary volume is based on the results of 24-hr urine collection and a spot urine for urinary sediment, culture and pH. Blood analysis for creatinine, calcium and uric acid must be obtained. Bone mineral density has to be determined mainly among hypercalciurics and primary hyperparathyroidism has to be ruled out. Current knowledge does not support calcium restriction recommendation because it can lead to secondary hyperoxaluria and bone demineralization. Reduction of animal protein and salt intake, higher fluid intake and potassium consumption should be implemented. Medical treatments involve the use of thiazides, allopurinol, potassium citrate or other drugs according to the metabolic disturbances. The correction of those metabolic abnormalities is the basic tool for prevention or reduction of recurrent stone formation.

O propósito desta revisão é apresentar uma atualização sobre os fatores de risco ou condições médica comuns associadas com a formação de cálculos renais, os métodos atualmente disponíveis para investigação metabólica, recomendações dietéticas e tratamento médico. A investigação laboratorial para hipercalciúria, hiperuricosuria, hiperoxalúria, cistinúria, hipocitratúria, acidose tubular renal, infecção do trato urinário e redução do volume urinário, é baseada nos resultados das coleções de urina de 24h e amostra isolada para sedimento urinário, cultura e pH. Deve-se obter análises sanguíneas para creatinina, cálcio e ácido úrico. Deve-se determinar a densidade mineral óssea especialmente entre pacientes hipercalciúricos, e o hiperparatiroidismo primário deve ser excluído. O conhecimento atual não endossa as recomendações de restrição de cálcio, já que isto pode levar o hiperaxalúria secundária e desmineralização óssea. Redução da ingesta de proteína animal e de sal deve ser implementada junto com aumento da ingesta de líquidos e do consumo de potássio. Tratamento medicamentoso envolve o uso de tiazídicos, alopurinol, citrato de potássio ou outras drogas, conforme o distúrbio metabólico. A correção dessas anormalidades metabólicas é o instrumento básico para a prevenção ou redução da formação recorrente de cálculos.

Caracterização clínica dos pacientes com hipercalciúria na nefrolitíase / Clinical characterization of patients with hypercalciuria in nephrolithiasis

Introdução: A hipercalciúria é comumente associada à nefrolitíase. Porém, o risco relacionado à formação de cálculos renais é pouco conhecido. Objetivo: Comparar a demografia e a evolução clínica de pacientes com nefrolitíase e hipercalciúria (HC) com pacientes portadores de outros distúrbios metabólicos(NH). Métodos: Foram estudados 155 pacientes com apenas um distúrbio metabólico e que apresentaram seguimento mínimo de um ano. Foram dosados em duas amostras de urina de 24 horas: cálcio, creatinina, sódio, ácido úrico, citrato, oxalato. A avaliação radiológica foi feita com ultra-sonografia e/ou Rxde abdome. Resultados: 69 (44,5%) pacientes apresentaram HC (333±118 mg/dia) e 86 (55,5%) outros distúrbios (NH). Não houve diferenças entre osgrupos na média de idade (40,1 ± 10,8 nos HC vs. 43 ± 13,9 anos NH), proporção homem/mulher, peso e índice de massa corporal (26,14 ± 4,58 HC vs.25,58 ± 5,16 NH). A pressão arterial foi semelhante nos dois grupos. História familiar de cálculo foi maior no grupo NH (44 NH vs. 25 no grupo HC, p<0,019). Os pacientes com HC relataram mais crises álgicas (326 HC vs. 282 NH, p<0,043) e apresentaram proporção maior de cálculos com diâmetro superior a 10 mm. A excreção de sódio foi maior no grupo HC (228,7±79 vs. 158,5±70,1 NH, p<0,0002). Conclusão: A HC esteve presente em 44,5% dos pacientes.Associou-se com maior número de crises álgicas e com cálculos maiores que os do grupo NH. A excreção de sódio foi maior no grupo HC e correlacionousecom a calciúria.

Introduction: Hypercalciuria is a common metabolic disorder associated with nephrolithiasis. However, little is known about the risk related to stoneformation. Objective: To compare demographic data and clinical course of nephrolithiasis patients with hypercalciuria (HC) and patients with others metabolic disorders (NH). Methods: We studied 155 patients with only one metabolic abnormality and with a minimum follow-up of one year. Two 24-h urine collections for volume, pH, calcium, creatinine, sodium, uric acid, citrate, and oxalate were obtained. Radiological evaluation consisted in abdominal ultrasound and/or. X-Ray. Results: Sixty-nine (44.5%) patients presented with HC (333±118 mg/day) and 86 (55.5%) with other metabolic disorders. There were no differences in age (40.1±10.8 HC vs. 43±13.9 years NH), gender, weight, and body mass index (26.14 ± 4.58 HC vs. 25.58 ± 5.16 NH). Blood pressure was similar in both groups. A familial history was present in 44 patients with NH vs. 25 in the HC group (p<0.019). HC patients reported higher frequency of both pain crisis (326 HC vs. 282 NH, p<0.043) and stones larger than 10 mm. Sodium excretion was higher in HC group (228.7±79 vs. 158.5±70.1 NH, p<0.0002). Conclusion: HC was present in 44.5% of patients. It was associated with a higher frequency of both pain crisis and larger stones than NH group. Sodium excretion was higher in HC patients and was directly correlated with urinary calcium.