RESUMEN
OBJECTIVE: To find out if cardiovascular alterations are present in pediatric patients with X-linked hypophosphatemia (XLH). STUDY DESIGN: Multicentre prospective clinical study on pediatric patients included in the RenalTube database ( www.renaltube.com ) with genetically confirmed diagnosis of XLH by mutations in the PHEX gene. The study's protocol consisted of biochemical work-up, 24-h ambulatory blood pressure monitoring (ABPM), carotid ultrasonography, and echocardiogram. All patients were on chronic treatment with phosphate supplements and 1-hydroxy vitamin D metabolites. RESULTS: Twenty-four patients (17 females, from 1 to 17 years of age) were studied. Serum concentrations (X ± SD) of phosphate and intact parathyroid hormone were 2.66 ± 0.60 mg/dl and 58.3 ± 26.8 pg/ml, respectively. Serum fibroblast growth factor 23 (FGF23) concentration was 278.18 ± 294.45 pg/ml (normal < 60 pg/ml). Abnormally high carotid intima media thickness was found in one patient, who was obese and hypertensive as revealed by ABPM, which disclosed arterial hypertension in two other patients. Z scores for echocardiographic interventricular septum end diastole and left ventricular posterior wall end diastole were + 0.77 ± 0.77 and + 0.94 ± 0.86, respectively. Left ventricular mass index (LVMI) was 44.93 ± 19.18 g/m2.7, and four patients, in addition to the obese one, had values greater than 51 g/m2.7, indicative of left ventricular hypertrophy. There was no correlation between these echocardiographic parameters and serum FGF23 concentrations. CONCLUSIONS: XLH pediatric patients receiving conventional treatment have echocardiographic measurements of ventricular mass within normal reference values, but above the mean, and 18% have LVMI suggestive of left ventricular hypertrophy without correlation with serum FGF23 concentrations. This might indicate an increased risk of cardiovascular involvement in XLH.
Asunto(s)
Enfermedades Cardiovasculares/etiología , Raquitismo Hipofosfatémico Familiar/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Adolescente , Niño , Preescolar , Femenino , Factor-23 de Crecimiento de Fibroblastos , Humanos , Lactante , MasculinoRESUMEN
Background: The G1 stage of chronic kidney disease (CKD) is defined in the 2012 KDIGO Guideline as kidney damage characterized by structural or functional kidney abnormalities without deterioration of glomerular filtration rate. Albuminuria and electrolyte abnormalities due to tubular disorders are considered functional markers of kidney damage. Changes in renal water handling are not explicitly cited in these guidelines. A large sample of children with abnormal dimercaptosuccinic acid (DMSA) scan located in the G1 stage was used in this study. Methods: Ambispective, cross-sectional study to evaluate the clinical histories of 116 pediatric patients. 100 patients were included in the first group (G1 stage) and 16 patients in the G2-G5 stages according to the classification of CKD Guideline KDIGO. All the patients had a renal pathologic DMSA scan. GFR, maximum urine osmolality and albumin/creatinine and NAG/creatinine ratios were determined. Results: The patients with normal GFR, in relation to those with reduced GFR, had significantly higher values of maximum urine osmolality and significantly reduced values of urine volume and albumin/creatinine and NAG/creatinine ratios. The most frequently observed alterations in children in the KDIGO G1 stage were those involving the water renal management such as urinary concentrating ability defect (29%) and increased urinary volume (20%). The frequency of children with increased urinary elimination of albumin (12%) and NAG (3%) was more lower. All children in KDIGO G2-G5 stages had alterations in water renal management. Conclusions: The parameters related with the water renal management are affected more frequently than albumin urinary excretion in children who have loss of parenchyma and normal GFR (AU)
Antecedentes: El estadio G1 de la enfermedad renal crónica (ERC) se define en la Guía KDIGO de 2012 como el daño renal caracterizado por anomalías estructurales o funcionales del riñón y sin deterioro del filtrado glomerular. Tanto la albuminuria como las anomalías que afectan a los electrolitos debido a trastornos tubulares se consideran marcadores de daños funcionales. No obstante, en esta guía no se explicitan cuáles son los cambios que se producen en el manejo renal del agua. En este estudio, se utilizó una muestra grande de niños en estadio G1 con gammagrafías con ácido dimercaptosuccínico (DMSA) anormales. Métodos: Llevamos a cabo un estudio transversal ambispectivo para evaluar las historias clínicas de 116 pacientes pediátricos. En el primer grupo, se incluyó a 100 pacientes en estadio G1 y a 16 pacientes en los estadios G2-G5 de la ERC de la clasificación de la Guía KDIGO. Las gammagrafías con DMSA de todos los pacientes revelaban patologías renales. Se calcularon las TFG, la osmolalidad urinaria máxima y los cocientes de albúmina/creatinina y de NAG/creatinina. Resultados: En comparación con los pacientes con TFG reducidas, los pacientes con TFG normales presentaron valores de osmolalidad urinaria máxima significativamente superiores, así como volúmenes urinarios y cocientes de albúmina/creatinina y de NAG/creatinina significativamente inferiores. Las alteraciones que se observaron con mayor frecuencia en los niños en estadio G1 de la Guía KDIGO afectaban al manejo renal del agua. Entre ellas, se encontraban fallos en la capacidad de concentración de la orina (29%) y un aumento del volumen urinario (20%). Sin embargo, se observó que la frecuencia de niños en los que aumentó la eliminación a través de la orina de albúmina (12%) y NAG (3%) era mucho menor. Por su parte, todos los niños en los estadios G2-G5 de la Guía KDIGO presentaban alteraciones en el manejo renal del agua. Conclusiones: Aquellos parámetros relacionados con el manejo renal del agua se ven afectados con más frecuencia que la albuminuria en niños con pérdidas de parénquima renal y TFG normales (AU)
Asunto(s)
Humanos , Capacidad de Concentración Renal/fisiología , Albuminuria/fisiopatología , Insuficiencia Renal Crónica/fisiopatología , Tasa de Filtración Glomerular/fisiología , Creatinina/análisis , Pruebas de Función Renal , Desamino Arginina Vasopresina/orinaRESUMEN
BACKGROUND: The G1 stage of chronic kidney disease (CKD) is defined in the 2012 KDIGO Guideline as kidney damage characterized by structural or functional kidney abnormalities without deterioration of glomerular filtration rate. Albuminuria and electrolyte abnormalities due to tubular disorders are considered functional markers of kidney damage. Changes in renal water handling are not explicitly cited in these guidelines. A large sample of children with abnormal dimercaptosuccinic acid (DMSA) scan located in the G1 stage was used in this study. METHODS: Ambispective, cross-sectional study to evaluate the clinical histories of 116 pediatric patients. 100 patients were included in the first group (G1 stage) and 16 patients in the G2-G5 stages according to the classification of CKD Guideline KDIGO. All the patients had a renal pathologic DMSA scan. GFR, maximum urine osmolality and albumin/creatinine and NAG/creatinine ratios were determined. RESULTS: The patients with normal GFR, in relation to those with reduced GFR, had significantly higher values of maximum urine osmolality and significantly reduced values of urine volume and albumin/creatinine and NAG/creatinine ratios. The most frequently observed alterations in children in the KDIGO G1 stage were those involving the water renal management such as urinary concentrating ability defect (29%) and increased urinary volume (20%). The frequency of children with increased urinary elimination of albumin (12%) and NAG (3%) was more lower. All children in KDIGO G2-G5 stages had alterations in water renal management. CONCLUSIONS: The parameters related with the water renal management are affected more frequently than albumin urinary excretion in children who have loss of parenchyma and normal GFR.
Asunto(s)
Agua Corporal/metabolismo , Diuresis , Insuficiencia Renal Crónica/fisiopatología , Adolescente , Albuminuria/etiología , Niño , Preescolar , Creatinina/análisis , Estudios Transversales , Femenino , Tasa de Filtración Glomerular , Humanos , Lactante , Capacidad de Concentración Renal , Túbulos Renales/fisiopatología , Masculino , Manosil-Glicoproteína Endo-beta-N-Acetilglucosaminidasa/análisis , Concentración Osmolar , Insuficiencia Renal Crónica/clasificación , Insuficiencia Renal Crónica/orina , Índice de Severidad de la EnfermedadAsunto(s)
Humanos , Nefrolitiasis/historia , Cálculos Renales/historia , Nefrología/historia , Hematuria , HipercalciuriaRESUMEN
Introducción: En una muestra amplia de niños diagnosticados de malformaciones del tracto urinario y/o infección urinaria, hemos calculado los índices de calidad y eficiencia diagnóstica de cinco marcadores funcionales con la intención de comprobar cuáles son los más sensibles para detectar la existencia de una pérdida de parénquima renal. Pacientes y métodos: Estudio retrospectivo transversal en el que se han evaluado las historias clínicas de 179 pacientes en edad pediátrica (91 varones, 88 mujeres). En 102 de ellos (57%), la gammagrafía demostró pérdida de parénquima. Las lesiones morfológicas más frecuentes fueron las cicatrices renales. A todos se les había practicado, al menos, una prueba de concentración realizada con estímulo de desmopresina. Además, se recogieron los resultados de los cocientes albúmina/creatinina y N-acetilglucosaminidasa (NAG)/creatinina, el filtrado glomerular renal (FGR) y el volumen urinario. Resultados: Distribuidos los pacientes según la normalidad o anormalidad de la gammagrafía, se observaron diferencias estadísticamente significativas entre ambos (..) (AU)
Introduction: We analysed a large sample of children diagnosed with urinary tract malformations and/or infections and calculated diagnostic efficiency and quality indexes for five different functional markers, with the goal of testing which is the most sensitive for detecting a loss of renal parenchyma. Patients and method: Ours was a cross-sectional retrospective study in which the clinical histories of 179 paediatric patients (91 male and 88 female) were evaluated. In 102 of these patients (57%), a scintigraphy revealed loss of parenchyma. The most commonly observed morphological type of damage was renal scarring. All patients had undergone at least one desmopressin urine concentration test. We also analysed albumin/creatinine and N-acetyl-glucosaminidase (NAG)/creatinine ratios, glomerular filtration rate (GFR), and urine volume. Results: By distributing patients according to normal/abnormal scintigraphy, we observed statistically significant differences between the two groups in maximum urine osmolality and GFR. Urine volume was elevated in 31.3% of cases (sensitivity: 37.9%; specificity: 81.8%) and 24% had a defect in renal concentrating ability (sensitivity: 30.4%; specificity: 84.8%). Urinary albumin excretion was high in 12.2% of patients, and 7.2% had a high NAG/creatinine ratio. GFR was low in only 5.7% of patients. These last two markers were the least sensitive but most specific for detecting a loss of renal parenchyma (100%). Conclusions: In our study, the most sensitive functional tests for detecting the loss of renal parenchyma were the two that take into account the ability of the kidney to manage water, i.e. urine volume and maximum urine osmolality. These two tests had specificity >80%. However, the maximum specificity was obtained by the NAG/creatinine ratio and GFR, which were, conversely, the least sensitive tests. A normal GFR does not necessarily show normal renal function (AU)
Asunto(s)
Humanos , Masculino , Femenino , Niño , Pruebas de Función Renal/métodos , Insuficiencia Renal Crónica/terapia , Tasa de Filtración Glomerular , Biomarcadores/análisis , Concentración Osmolar , Corteza Renal/lesionesRESUMEN
INTRODUCTION: We analysed a large sample of children diagnosed with urinary tract malformations and/or infections and calculated diagnostic efficiency and quality indexes for five different functional markers, with the goal of testing which is the most sensitive for detecting a loss of renal parenchyma. PATIENTS AND METHOD: Ours was a cross-sectional retrospective study in which the clinical histories of 179 paediatric patients (91 male and 88 female) were evaluated. In 102 of these patients (57%), a scintigraphy revealed loss of parenchyma. The most commonly observed morphological type of damage was renal scarring. All patients had undergone at least one desmopressin urine concentration test. We also analysed albumin/creatinine and N-acetyl-glucosaminidase (NAG)/creatinine ratios, glomerular filtration rate (GFR), and urine volume. RESULTS: By distributing patients according to normal/abnormal scintigraphy, we observed statistically significant differences between the two groups in maximum urine osmolality and GFR. Urine volume was elevated in 31.3% of cases (sensitivity: 37.9%; specificity: 81.8%) and 24% had a defect in renal concentrating ability (sensitivity: 30.4%; specificity: 84.8%). Urinary albumin excretion was high in 12.2% of patients, and 7.2% had a high NAG/creatinine ratio. GFR was low in only 5.7% of patients. These last two markers were the least sensitive but most specific for detecting a loss of renal parenchyma (100%). CONCLUSIONS: In our study, the most sensitive functional tests for detecting the loss of renal parenchyma were the two that take into account the ability of the kidney to manage water, i.e. urine volume and maximum urine osmolality. These two tests had specificity >80%. However, the maximum specificity was obtained by the NAG/creatinine ratio and GFR, which were, conversely, the least sensitive tests. A normal GFR does not necessarily show normal renal function.
Asunto(s)
Biomarcadores/orina , Riñón/patología , Infecciones Urinarias/orina , Anomalías Urogenitales/orina , Acetilglucosaminidasa/orina , Adolescente , Albuminuria/etiología , Albuminuria/orina , Atrofia/diagnóstico , Niño , Preescolar , Creatinina/sangre , Creatinina/orina , Estudios Transversales , Desamino Arginina Vasopresina , Femenino , Tasa de Filtración Glomerular , Humanos , Lactante , Riñón/diagnóstico por imagen , Capacidad de Concentración Renal , Masculino , Concentración Osmolar , Cintigrafía , Estudios Retrospectivos , Sensibilidad y Especificidad , Infecciones Urinarias/diagnóstico por imagen , Infecciones Urinarias/patología , Anomalías Urogenitales/diagnóstico por imagen , Anomalías Urogenitales/patología , Reflujo Vesicoureteral/diagnóstico por imagen , Reflujo Vesicoureteral/etiología , Reflujo Vesicoureteral/patología , Reflujo Vesicoureteral/orinaRESUMEN
Objetivo: El reflujo vesicoureteral (RVU) se ha asociado, desde antiguo, a insuficiencia renal crónica (IRC). No obstante, antes de alterarse el filtrado glomerular, pueden afectarse algunos parámetros funcionales como la osmolalidad urinaria máxima (Uosm) y la eliminación urinaria de microalbúmina. Métodos: Se han estudiado retrospectivamente las historias clínicas de 77 niños (37 varones y 40 mujeres; 48% y 52%, respectivamente) diagnosticados de RVU y que en el momento del estudio estaban curados y tenían dos o más años de edad (6.28±3.75: rango: 2-16 años). Además de la Uosm y la eliminación urinaria de microalbúmina, se recogieron el grado de RVU, los niveles de creatinina y GFR y las anomalías morfológicas detectadas en las gammagrafías realizadas con ácido Tc-99 dimercaptosuccínico (DMSA). Resultados: Sólo cuatro pacientes tenían IRC moderada. No se observaron diferencias en los valores de Uosm según los grados de RVU. Todos los niños con RVU de grado I y II tuvieron una prueba de concentración renal normal. Se observó defecto de concentración a largo plazo en 15 niños, seis con grado III, ocho con grado IV y uno con grado V. Sólo dos pacientes con DMSA normal tuvieron la Uosm reducida. La Uosm se correlacionó directamente con el GFR (r = 0.6; p< 0.001). Con respecto a la eliminación urinaria de microalbúmina, se comprobaron valores elevados en 11 niños, uno con grado II, cuatro con grado III y seis con grado IV. Únicamente, cuatro pacientes con DMSA normal mostraron valores de microalbúminuria por encima de lo normal. Se observó una correlación negativa entre los niveles de osmolalidad y el cociente microalbúmina/creatinina (r = -0.37; p< 0.001). Los pacientes con cicatrices bilaterales mostraron con respecto a aquellos con DMSA normal, valores significativamente reducidos de Uosm y de GFR. Conclusiones: Al final del periodo de seguimiento, hemos comprobado defecto de la capacidad de concentración en el 19.5% y aumento de la microalbuminuria en el 14.3% de los niños que habían sido diagnosticados de RVU. La frecuencia de IRC en nuestra serie es muy reducida (5,1%). El deterioro observado de la función renal se relaciona con la pérdida de parénquima renal más que con el grado inicial de RVU (AU)
Objectives: Vesicoureteral reflux (VUR) has been associated, since the old times, with chronic renal failure (CRF). Nevertheless, some functional parameters may be altered before glomerular filtration rate deteriorates, such as maximum urinary osmolality (Uosm) and urinary excretion of microalbumin. Methods: We retrospectively studied the records of 77 children (37 males and 14 females; 48% and 52% respectively) with the diagnosis of VUR that were cured at the time of the study and were two years old or older (6.28 ± 3.75; range: 2-16 years). In addition to Uosm and urinary excretion of microalbumin, the grade of VUR, creatinine levels, GFR, and morphological anomalies detected in 99Tc dimercaptosuccinate gammagrams (DMSA) were collected. Results: Only four patients had moderate CRF. No differences in Uosm values were observed according to VUR grade. All children with grade I and II VUR had a normal renal concentration test. A long-term concentration defect was observed in 15 children, six with grade III, 8 with grade IV, and 1 with grade V. Only 2 patients with normal DMSA had reduced Uosm. Uosm had a direct correlation with GFR (r = 0.6; p < 0.001). Regarding urinary excretion of microalbumin, elevated values were found in 11 children, one with grade II, four with grade III, and six with grade IV. Only four patients with normal DMSA showed microalbumin values over the normal range. A negative correlation between osmolality levels and microalbumin/creatinine quotient was observed (r = - 0.37; p < 0.001). In comparison with patients with normal DMSA, patients with bilateral scars showed significantly lower values of Uosm and GFR. Conclusions: At the end of the follow-up period we observed a defect on concentration capacity in 19.5% and increase of microalbuminuria in 14.3% of the children with the diagnosis of VUR. The frequency of CRF in our series is very low (5.1%). The observed renal tubular function deterioration is more in relation with the loss of renal parenchyma than the initial grade of VUR (AU)