Surgical treatment of secondary hyperparathyroidism in children with chronic kidney disease. Experience in 19 patients.

OBJECTIVES: Secondary hyperparathyroidism (sHPT) is an important contributor to bone disease and cardiovascular calcifications in children with chronic kidney disease (CKD). When conservative measures are ineffective, parathyroidectomy is indicated. The aim of our study was to evaluate the efficacy and safety of subtotal parathyroidectomy (sPTX) in pediatric and adolescent patients, and to provide a rationale for considering this aggressive treatment in CKD patients with uncontrolled sHPT. METHODS: We retrospectively analyzed the medical records of 19 pediatric CKD patients on dialysis with refractory sHPT who underwent sPTX at our institution between 2010 and 2020. All patients had clinical, radiological, and biochemical signs of renal osteodystrophy. RESULTS: One year after sPTX, parathyroid hormone (PTH) levels (median and interquartile range (IQR)) dropped from 2073 (1339-2484) to 164 (93-252) pg/mL (p=0.0001), alkaline phosphatase (ALP) levels from 1166 (764-2373) to 410 (126-421) IU/L (p=0.002), and the mean (±SDS) calcium-phosphate (Ca*P) product from 51±11 to 41±13 mg2/dL2 (p=0.07). Postoperatively, all patients presented with severe hungry bone syndrome (HBS) and required intravenous and oral calcium and calcitriol supplementation. None of them had other postoperative complication. Histological findings had a good correlation with preoperative parathyroid ultrasound imaging (n: 15) in 100 % and with technetium-99m (99mTc) sestamibi scintigraphy (n: 15) in 86.6 %. Clinical and radiological signs of bone disease improved in all patients. CONCLUSIONS: Pediatric sPTX is effective and safe to control sHPT and calcium-phosphate metabolism in children with CKD on dialysis and may mitigate irreversible bone deformities and progression of cardiovascular disease.

Bacteremia associated with non-tunneled central venous catheters in children undergoing chronic hemodialysis. / Bacteriemia asociada a catéteres venosos centrales no tunelizados en niños en hemodiálisis crónica.

Introduction. Central venous catheter (CVC)-related infection is the main complication observed in patients undergoing hemodialysis with this type of venous access. Objective. To estimate the incidence of non-tunneled CVC-related bacteremia, analyze the frequency of causative agents, and explore associated risk factors in children undergoing hemodialysis. Population and methods. Retrospective study in children receiving hemodialysis via a non-tunneled CVC between June 1st, 2015 and June 30th, 2019. A logistic regression was carried out to assess risk factors that were predictors of CVC-related bacteremia. Independent risk factors were described as odds ratios with their corresponding 95% confidence interval (CI). A value of p < 0.05 was considered statistically significant. Results. A total of 121 non-tunneled CVCs were included in this study. The incidence of bacteremia was 3.15 per 1000 catheter-days. The most commonly isolated microorganism was Staphylococcus epidermidis (16 cases, 51.5%). Prior catheter infection was the only independent risk factor for the development of bacteremia associated with non-tunneled CVC (OR: 2.84, 95% CI: 1.01-7.96, p = 0.04). Conclusions. Prolonged use of non-tunneled CVCs for chronic hemodialysis was associated with a low incidence of bacteremia. Gram-positive microorganisms prevailed among causative agents. A prior CVC infection almost trebled the risk for CVC-related bacteremia in our pediatric population receiving hemodialysis.

Introducción. La infección asociada a catéter venoso central (CVC) es la principal complicación que presentan los pacientes en hemodiálisis en los que se usa este tipo de acceso. Objetivo. Estimar la incidencia de bacteriemia asociada a CVC no tunelizado, analizar la frecuencia de agentes causales y explorar factores de riesgo asociados en niños en hemodiálisis. Población y métodos. Estudio retrospectivo realizado en niños en hemodiálisis por CVC no tunelizado entre el 1 junio de 2015 y el 30 de junio de 2019. Para evaluar factores de riesgo predictores de bacteriemia asociada a CVC, se realizó regresión logística. Los factores de riesgo independiente se expresaron con odds ratio con sus respectivos intervalos de confianza del 95 %. Se consideró estadísticamente significativo un valor de p <0,05. Resultados. En este estudio se incluyeron 121 CVC no tunelizados. La incidencia de bacteriemia fue de 3,15 por 1000 días de catéter. El microorganismo aislado con mayor frecuencia fue Staphylococcus epidermidis (16 casos, 51,5 %). La infección previa del catéter fue el único factor de riesgo independiente encontrado para el desarrollo de bacteriemia asociada a CVC no tunelizado (OR: 2,84; IC95%: 1,017,96; p =0,04). Conclusiones. El uso prolongado de los CVC no tunelizados para hemodiálisis crónica se asoció con una incidencia baja de bacteriemia. Los gérmenes grampositivos predominaron como agentes causales. La presencia de infección previa del CVC aumentó en casi 3 veces el riesgo de bacteriemia asociada a CVC en nuestra población pediátrica en hemodiálisis.

Prevalence of renal involvement among pediatric patients hospitalized due to coronavirus disease 2019: A multicenter study. / Prevalencia de compromiso renal en pacientes pediátricos internados con enfermedad por coronavirus 2019: estudio multicéntrico.

INTRODUCTION: Renal involvement among pediatric patients with coronavirus disease 2019 (COVID-19) ranges between 1.2% and 44%. Given the limited information available locally, the primary objective of this study was to estimate the prevalence of renal involvement in our setting. POPULATION AND METHODS: Cross-sectional study conducted in 13 Argentine sites between March and December 2020. Patients aged 1 month to 18 years hospitalized due to COVID-19 and with at least one measurement of serum creatinine and/or a urinalysis were included. Those with a known kidney disease were excluded. Renal involvement was defined as the presence of acute kidney injury (AKI), proteinuria, hematuria, leukocyturia and/or arterial hypertension (HTN). RESULTS: Among 528 eligible medical records, 423 patients were included (55.0% were males; median age: 5.3 years). The clinical presentation was asymptomatic in 31%; mild, in 39.7%; moderate, in 23.9%; severe, in 1.2%; critical, in 0.7%; and 3.5% had multisystem inflammatory syndrome in children (MIS-C). Two patients (0.47%) died. The prevalence of renal involvement was 10.8% (95% confidence interval: 8.2-14.2); it was described as leukocyturia (16.9%), proteinuria (16.0%), hematuria (13.2%), HTN (3.7%), and AKI (2.3%). No patient required dialysis. Renal involvement was associated with severe forms of disease (p < 0.0001). CONCLUSIONS: The prevalence of renal involvement among pediatric patients hospitalized due to COVID-19 in 13 Argentine sites was 10.8%; severe forms of disease prevailed.

Introducción. El compromiso renal (CR) en niños internados con enfermedad por coronavirus 2019 (COVID-19, por su sigla en inglés) varía entre el 1,2 % y el 44 %. Dado que existe limitada información local, el objetivo primario de este estudio fue estimar la prevalencia de CR en nuestro medio. Población y métodos. Estudio transversal realizado en 13 centros de Argentina entre marzo y diciembre de 2020. Se incluyeron pacientes internados con COVID-19, de 1 mes a 18 años y que tuvieran al menos una determinación de creatinina sérica y/o de orina completa. Se excluyeron aquellos con enfermedad renal conocida. Se consideró CR la presencia de lesión renal aguda (LRA), proteinuria, hematuria, leucocituria y/o hipertensión arterial (HTA). Resultados. De 528 historias clínicas elegibles, se incluyeron las de 423 pacientes (el 55,0 % de sexo masculino, mediana de edad 5,3 años). El cuadro clínico fue asintomático en el 31 %, leve en el 39,7 %, moderado en el 23,9 %, grave en el 1,2 %, crítico en el 0,7 %, y el 3,5 % presentó síndrome inflamatorio multisistémico pediátrico (SIMP). Dos pacientes (0,47 %) fallecieron. La prevalencia de CR fue del 10,8 % (intervalo de confianza 95% 8,2-14,2), expresada por leucocituria (16,9 %), proteinuria (16,0 %), hematuria (13,2 %), HTA (3,7 %) y LRA (2,3 %). Ninguno requirió diálisis. Presentar CR se asoció (p <0,0001) con formas graves de enfermedad. Conclusión. La prevalencia de CR en pacientes pediátricos internados con COVID-19 en 13 centros de nuestro país fue del 10,8 % y predominó en las formas clínicas graves.

Prevalencia de compromiso renal en pacientes pediátricos internados con enfermedad por coronavirus 2019: estudio multicéntrico / Prevalence of renal involvement among pediatric patients hospitalized due to coronavirus disease 2019: A multicenter study

Introducción. El compromiso renal (CR) en niñosinternados con enfermedad por coronavirus2019 (COVID-19, por su sigla en inglés) varía entre el 1,2 % y el 44 %. Dado que existe limitada información local, el objetivo primario de este estudio fue estimar la prevalencia de CR en nuestro medio. Población y métodos. Estudio transversalrealizado en 13 centros de Argentina entre marzo y diciembre de 2020. Se incluyeron pacientes internados con COVID-19, de 1 mes a 18 años y que tuvieran al menos una determinación de creatinina sérica y/o de orina completa.Se excluyeron aquellos con enfermedad renal conocida. Se consideró CR la presencia de lesión renal aguda (LRA), proteinuria, hematuria, leucocituria y/o hipertensión arterial (HTA). Resultados. De 528 historias clínicas elegibles, seincluyeron las de 423 pacientes (el 55,0 % de sexo masculino, mediana de edad 5,3 años). El cuadro clínico fue asintomático en el 31 %, leve en el 39,7 %, moderado en el 23,9 %, grave en el 1,2 %, crítico en el 0,7 %, y el 3,5 % presentó síndrome inflamatorio multisistémico pediátrico (SIMP). Dos pacientes (0,47 %) fallecieron. La prevalencia de CR fue del 10,8 % (intervalo de confianza 95% 8,2-14,2), expresada por leucocituria (16,9 %), proteinuria (16,0 %), hematuria (13,2 %), HTA (3,7 %) y LRA (2,3 %). Ninguno requirió diálisis. Presentar CR se asoció (p <0,0001) con formas graves de enfermedad. Conclusión. La prevalencia de CR en pacientes pediátricos internados con COVID-19 en 13 centros de nuestro país fue del 10,8 % y predominó en las formas clínicas graves.

Introduction. Renal involvement among pediatric patients with coronavirus disease 2019 (COVID-19) ranges between 1.2% and 44%. Given the limited information available locally, the primary objective of this study was to estimate the prevalence of renal involvement in our setting. Population and methods. Cross-sectional study conducted in 13 Argentine sites between March and December 2020. Patients aged 1 month to 18 years hospitalized due to COVID-19 and with at least one measurement of serum creatinine and/or a urinalysis were included. Those with a known kidney disease were excluded. Renal involvement was defined as the presence of acute kidney injury (AKI), proteinuria, hematuria, leukocyturia and/or arterial hypertension (HTN). Results. Among 528 eligible medical records, 423 patients were included (55.0% were males; median age: 5.3 years). The clinical presentation was asymptomatic in 31%; mild, in 39.7%; moderate, in 23.9%; severe, in 1.2%; critical, in 0.7%; and 3.5% had multisystem inflammatory syndrome in children (MIS-C). Two patients (0.47%) died. The prevalence of renal involvement was 10.8% (95% confidence interval: 8.2­14.2); it was described as leukocyturia (16.9%), proteinuria (16.0%), hematuria (13.2%), HTN (3.7%), and AKI (2.3%). No patient required dialysis. Renal involvement was associated with severe forms of disease (p < 0.0001). Conclusion. The prevalence of renal involvement among pediatric patients hospitalized due to COVID-19 in 13 Argentine sites was 10.8%; severe forms of disease prevailed.

Nephro-urological outcomes of a proactive management of children with spina bifida in their first 5 Years of life.

INTRODUCTION: The proactive management of spina bifida (SB), especially of its severe form, myelomeningocele (MMC), has contributed to decreasing chronic kidney disease (CKD). The objective of this study is to present the evolution of 5-year-old patient with MMC followed from birth with a proactive approach. MATERIAL AND METHODS: This retrospective study included 55 cases with MMC of up to 5 years of age. All of them were admitted at birth and followed by a multidisciplinary group, with a proactive approach: CIC and anticholinergics. In the same group, the variables were compared within the first year and the within the fifth year of life. Chronic kidney disease (CKD) was defined by: alterations on renal DMSA scintigraphy; alterations in microalbuminuria/creatininuria ratio, proteinuria 24 hs and decrease in glomerular filtration rate (GFR) calculated with Schwartz bedside equation. RESULTS: Although overactivity, UTI and VUR decreased throughout the first 5 years (49, 9 and 12%), reduced cystometric capacity, DLPP >40 cm of water and end-filling pressure (Pdet) >20 cm of water increased (41, 27 and 61%). All patients at 5 years of age required CIC. Reduced cystometric capacity and VUR were more significant with abnormal DMSA (36%) at 5 years old ( p: 0.03). Proteinuria and CKD increased to 25% and 49%. Similarly, the need for enalapril increased from 10% to 27%. The microalbuminuria/creatininuria ratio was pathological in 27.3%. 48 patients (87%) remained unchanged on DMSA scan and the other 7 underwent modifications (4 new cases with altered DMSA) over time. Of the 32 normal DMSA cases without changes, 81% did not present proteinuria and 88% continued to respond favorably to oxybutynin. GFR <90 ml/min/1.72m 2 was found in only 3 cases with abnormal DMSA. There was a RR 1.91 (IC95% 1.15-3.16) greater of renal compromise in cases that were anticholinergic-resistant compared to non-refractory cases. DISCUSSION: Over time, some patients suffered loss of bladder wall compliance, despite the proactive approach. There is an association between abnormal renal DMSA, reduced bladder capacity, and VUR at 5 years of age. Although proteinuria, CKD and enalapril requirement increased over 5 years, almost 90% did not show changes in renal DMSA status. CONCLUSIONS: Over time, some patients suffered loss of bladder wall compliance. Hence, even if a proactive approach is followed since birth, it is essential to continue with the ongoing monitoring of the renal status and thus avoid greater renal deterioration.

Utilidad clínica del equivalente de hemoglobina reticulocitaria en niños en hemodiálisis / Clinical usefulness of the reticulocyte hemoglobin equivalent in children on hemodialysis

Introducción. La anemia por deficiencia de hierro en hemodiálisis es frecuente. Para su detección se utiliza la ferritina sérica y la saturación de transferrina (ST). El equivalente de hemoglobina reticulocitaria (RET-He) es un análisis que no se modifica en estados inflamatorios y refleja directamente el hierro disponible en médula ósea.Objetivo. Explorar la capacidad diagnóstica de deficiencia absoluta de hierro del RET-He y evaluar su correlación con marcadores tradicionales de ferropenia.Población y métodos. Estudio retrospectivo que comparó RET-He con ferritina y ST en niños en hemodiálisis atendidos en el Hospital Garrahan entre julio de 2016 y julio de 2019. Resultados. En 164 observaciones realizadas en 40 niños, se encontró correlación positiva débil entre hemoglobina y RET-He (r 0,35, p < 0,001), positiva significativa entre ST y RET-He (r 0,52, p < 0,001), negativa baja entre hemoglobina y ferritina (r -0,19, p 0,02) y ausencia de correlación entre hemoglobina y ST (r 0,05, p 0,5). El 50 % presentaba anemia; la ferropénica fue por marcadores tradicionales en el 13 % y por RET-He en el 44 %. El RET-He mostró sensibilidad del 90,9 % (IC 95: 57,1-99,5 %), especificidad del 74,5 % (IC 95: 66,7-81 %), valor predictivo negativo del 99,1 % (IC 95: 94,5-99,9 %) y positivo del 20,4 % (IC 95: 10,7-34,7 %) para detectar anemia ferropénica con valor de corte de 29 picogramos.Conclusiones. Pese a su capacidad limitada, el RET-He como biomarcador de deficiencia de hierro aumenta la detección de anemia ferropénica en niños en hemodiálisis

Introduction. Iron-deficiency anemia is common in hemodialysis patients. Serum ferritin and transferrin saturation (TS) are used for its detection. The reticulocyte hemoglobin equivalent (RET-He) is a marker that is not altered by inflammatory conditions and directly reflects iron availability in the bone marrow.Objective. To explore the diagnostic capability of RET-He to detect absolute iron deficiency and assess its correlation with traditional markers of iron deficiency.Population and methods. Retrospective study comparing RET-He with ferritin and TS in children on hemodialysis seen at Hospital Garrahan between July 2016 and July 2019.Results. In 164 observations carried out in 40 children, a weak positive correlation was found between hemoglobin and RET-He (r = 0.35, p < 0.001), a significant positive correlation between TS and RET-He (r = 0.52, p < 0.001), a low negative correlation between hemoglobin and ferritin (r = -0.19, p = 0.02), and a lack of correlation between hemoglobin and TS (r = 0.05, p = 0.5). Anemia was observed in 50 %; iron-deficiency anemia was detected by traditional markers in 13 % and by RET-He in 44 %. RET-He showed a sensitivity of 90.9 % (95 % CI: 57.1-99.5 %), a specificity of 74.5 % (95 % CI: 66.7-81 %), a negative predictive value of 99.1 % (95 % CI: 94.5-99.9 %), and a positive predictive value of 20.4 % (95 % CI: 10.7-34.7 %) to detect iron-deficiency anemia with a cut-off value of 29 pg.Conclusions. Despite its limited capability, the use of RET-He as a biomarker of iron deficiency increases the detection of iron-deficiency anemia in children on hemodialysis.

Clinical usefulness of the reticulocyte hemoglobin equivalent in children on hemodialysis. / Utilidad clínica del equivalente de hemoglobina reticulocitaria en niños en hemodiálisis.

INTRODUCTION: Iron-deficiency anemia is common in hemodialysis patients. Serum ferritin and transferrin saturation (TS) are used for its detection. The reticulocyte hemoglobin equivalent (RET-He) is a marker that is not altered by inflammatory conditions and directly reflects iron availability in the bone marrow. OBJECTIVE: To explore the diagnostic capability of RET-He to detect absolute iron deficiency and assess its correlation with traditional markers of iron deficiency. POPULATION AND METHODS: Retrospective study comparing RET-He with ferritin and TS in children on hemodialysis seen at Hospital Garrahan between July 2016 and July 2019. RESULTS: In 164 observations carried out in 40 children, a weak positive correlation was found between hemoglobin and RETHe (r = 0.35, p < 0.001), a significant positive correlation between TS and RET-He (r = 0.52, p < 0.001), a low negative correlation between hemoglobin and ferritin (r = -0.19, p = 0.02), and a lack of correlation between hemoglobin and TS (r = 0.05, p = 0.5). Anemia was observed in 50 %; iron-deficiency anemia was detected by traditional markers in 13 % and by RET-He in 44 %. RET-He showed a sensitivity of 90.9 % (95 % CI: 57.1-99.5 %), a specificity of 74.5 % (95 % CI: 66.7-81 %), a negative predictive value of 99.1 % (95 % CI: 94.5-99.9 %), and a positive predictive value of 20.4 % (95 % CI: 10.7-34.7 %) to detect iron-deficiency anemia with a cut-off value of 29 pg. CONCLUSIONS: Despite its limited capability, the use of RET-He as a biomarker of iron deficiency increases the detection of iron-deficiency anemia in children on hemodialysis.

Introducción. La anemia por deficiencia de hierro en hemodiálisis es frecuente. Para su detección se utiliza la ferritina sérica y la saturación de transferrina (ST). El equivalente de hemoglobina reticulocitaria (RET-He) es un análisis que no se modifica en estados inflamatorios y refleja directamente el hierro disponible en médula ósea. Objetivo. Explorar la capacidad diagnóstica de deficiencia absoluta de hierro del RETHe y evaluar su correlación con marcadores tradicionales de ferropenia. Población y métodos. Estudio retrospectivo que comparó RET-He con ferritina y ST en niños en hemodiálisis atendidos en el Hospital Garrahan entre julio de 2016 y julio de 2019. Resultados. En 164 observaciones realizadas en 40 niños, se encontró correlación positiva débil entre hemoglobina y RET-He (r 0,35, p < 0,001), positiva significativa entre ST y RET-He (r 0,52, p < 0,001), negativa baja entre hemoglobina y ferritina (r -0,19, p 0,02) y ausencia de correlación entre hemoglobina y ST (r 0,05, p 0,5). El 50 % presentaba anemia; la ferropénica fue por marcadores tradicionales en el 13 % y por RETHe en el 44 %. El RET-He mostró sensibilidad del 90,9 % (IC 95: 57,1-99,5 %), especificidad del 74,5 % (IC 95: 66,7-81 %), valor predictivo negativo del 99,1 % (IC 95: 94,5-99,9 %) y positivo del 20,4 % (IC 95: 10,7-34,7 %) para detectar anemia ferropénica con valor de corte de 29 picogramos. Conclusiones. Pese a su capacidad limitada, el RET-He como biomarcador de deficiencia de hierro aumenta la detección de anemia ferropénica en niños en hemodiálisis.

Series de Pediatría Garrahan. El niño con trastornos renales y de las vías urinarias / Garrahan Pediatrics Series. The child with renal and urinary tract disorders

Las consultas pediátricas por enfermedad renal o de las vías urinarias son frecuentes e incluyen una amplia variedad diagnóstica que desafía al pediatra en su abordaje, la detección de riesgos en el corto y largo plazo, la derivación oportuna al especialista y el seguimiento de las condiciones que generaron cronicidad. En este nuevo volumen de las Series de Pediatría Garrahan se han reunido prestigiosos pediatras y nefrólogos infantiles para actualizar y trasnmitir el manejo integral de algunas de las patologías de mayor prevalencia e impacto, muchas de las cuales causan morbilidad alejada y requieren equipos multidisciplinarios que aseguren una transición en el cuidado del niño, el adolescente y el adulto. Entre sus caracterísitcas se destacan: El estudio detallado de patologías clínicas como las infecciones urinarias, la lesión renal aguda, el síndrome nefrótico, la enfermedad renal progresiva, las terapias de reemplazo renal y la hypertensión arterial. El desarrollo de casos clínicos con las secuencias habituales en el transcurso habitual de las enfermedades que permite destacar las presentaciones clínicas, las alternativas diagnósticas y terapéuticas, así como las posibilidades evolutivas. El cierre de cada capítulo con un recordatorio de puntos clave y lecturas recomendadas y, además, el material complementario disponible en el sitio web. El objetivo es compartir la modalidad de trabajo del hospital, con base en el rol central del pediatra como coordinador de la atención interdisciplinaria en cada una de sus etapas. Una obra actualizada y práctica que aporta información científica y experiencia de los profesionales de una institución de prestigio, de granutilidad para todos aquellos miembros del equipo de salud que atienden y cuidan niños, dondequiera que trabajen al servivio de la salud infantil.

Glomerulopatías combinadas: comunicación de 2 casos pediátricos / Combined glomerulopathies: two pediatric cases

La combinación de glomerulopatías es infrecuente en la población pediátrica. Su presencia debe ser sospechada en aquellos pacientes con una enfermedad glomerular de curso clínico atípico. La influencia a largo plazo sobre el deterioro funcional renal permanece incierta. Se presentan dos niños con características histológicas de glomerulopatía combinada.

Combined glomerulopathy is infrequent in pediatric patients. Its presence should be suspected in those patients with glomerulophaties with atypical course. The influence on the long-term renal impairment remains uncertain. Here we report two children with histological findings of combined glomerulopathy.

[Combined glomerulopathies: two pediatric cases]. / Glomerulopatías combinadas: comunicación de 2 casos pediátricos.

Combined glomerulopathy is infrequent in pediatric patients. Its presence should be suspected in those patients with glomerulophaties with atypical course. The influence on the long-term renal impairment remains uncertain. Here we report two children with histological findings of combined glomerulopathy.

La combinación de glomerulopatías es infrecuente en la población pediátrica. Su presencia debe ser sospechada en aquellos pacientes con una enfermedad glomerular de curso clínico atípico. La influencia a largo plazo sobre el deterioro funcional renal permanece incierta. Se presentan dos niños con características histológicas de glomerulopatía combinada.

Anomalías renales en niños con síndrome de Alagille / Renal manifestations in children with Alagille syndrome

Introducción. El síndrome de Alagille (SA) es una enfermedad colestásica debida a la escasez de los conductos biliares interlobulares. Se asocia con manifestaciones extrahepáticas, y el compromiso renal es frecuente. Objetivos. Describir la prevalencia, tipo y evolución de la patología renal en niños con SA. Pacientes y métodos. Se estudió retrospectivamente la presencia y evolución de la patología renal en 21 niños que reunían criterios de SA. Resultados. En 18 pacientes (85,7%), se observó patología renal: (1) alteraciones ecográficas en 7 (displasia renal bilateral en 6 y agenesia renal en 1); (2) acidosis tubular renal distal en 2; (3) caída de filtrado glomerular y/o proteinuria en 16. La frecuencia de caída de filtrado glomerular fue similar entre pacientes con y sin ecografía renal patológica. Conclusiones. Nuestro estudio confirma una alta prevalencia de compromiso renal, lo que enfatiza la importancia del diagnóstico y seguimiento de la función renal en niños con SA.

Introduction. Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. Objectives. To describe the prevalence, type and outcome of renal pathology in children with AS. Patients and Methods. The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. Results. Renal pathology was observed in 18 patients (85.7%): (1) ultrasound variations in 7 patients (6 cases of bilateral renal dysplasia and 1 case of renal agenesis); (2) distal renal tubular acidosis in 2 patients; (3) a drop in glomerular filtration and/or proteinuria in 16 patients. The frequency of a drop in glomerular filtration was similar between patients with and without pathological kidney ultrasound findings. Conclusions. Our study confirms a high prevalence of renal involvement, which enhances the importance of diagnosis and renal function follow-up in children with AS.

Renal manifestations in children with Alagille syndrome. / Anomalías renales en niños con síndrome de Alagille.

INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. OBJECTIVES: To describe the prevalence, type and outcome of renal pathology in children with AS. PATIENTS AND METHODS: The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. RESULTS: Renal pathology was observed in 18 patients (85.7%): (1) ultrasound variations in 7 patients (6 cases of bilateral renal dysplasia and 1 case of renal agenesis); (2) distal renal tubular acidosis in 2 patients; (3) a drop in glomerular filtration and/or proteinuria in 16 patients. The frequency of a drop in glomerular filtration was similar between patients with and without pathological kidney ultrasound findings. CONCLUSIONS: Our study confirms a high prevalence of renal involvement, which enhances the importance of diagnosis and renal function follow-up in children with AS.

INTRODUCCIÓN: El síndrome de Alagille (SA) es una enfermedad colestásica debida a la escasez de los conductos biliares interlobulares. Se asocia con manifestaciones extrahepáticas, y el compromiso renal es frecuente. OBJETIVOS: Describir la prevalencia, tipo y evolución de la patología renal en niños con SA. PACIENTES Y MÉTODOS: Se estudió retrospectivamente la presencia y evolución de la patología renal en 21 niños que reunían criterios de SA. RESULTADOS: En 18 pacientes (85,7%), se observó patología renal: (1) alteraciones ecográficas en 7 (displasia renal bilateral en 6 y agenesia renal en 1); (2) acidosis tubular renal distal en 2; (3) caída de filtrado glomerular y/o proteinuria en 16. La frecuencia de caída de filtrado glomerular fue similar entre pacientes con y sin ecografía renal patológica. CONCLUSIONES: Nuestro estudio confirma una alta prevalencia de compromiso renal, lo que enfatiza la importancia del diagnóstico y seguimiento de la función renal en niños con SA.

Near-adult height in male kidney transplant recipients started on growth hormone treatment in late puberty.

BACKGROUND: Growth retardation and its impact on adult height is considered to be one of the most common complications in patients with chronic kidney disease (CKD). Treatment with recombinant human growth hormone (rhGH) has been effective in improving growth in kidney transplantation (KTx) patients, but little data are available on adult height in patients who began rhGh treatment in late puberty. METHODS: Near-adult height was evaluated in 13 KTx patients treated with rhGH [growth hormone group (GHGr); dose 9.33 mg/m2 per week] for a period of at least 18 months. At initiation of rhGH treatment, testicular volume was >8 ml and serum testosterone was >1 ng/ml compared with the control group (CGr) of ten KTx patients who did not receive rHGH. All subjects were of similar chronological age and bone age and had similar creatinine clearance (CrCl) levels, cumulative corticoid dose, height standard deviation score (SDS), target height SDS, and target height:initial height at the beginning of the study. RESULTS: Near-adult height was significantly greater in the GHGr than in the CGr (-1.8 ± 0.8 vs. -2.9 ± 1.1; p = 0.018). The difference between initial height and near-adult height in the GHGr revealed a significant height gain (initial height -3.1 ± 1.1; near-adult height -1.8 ± 0.8 SDS, respectively; delta 1.2 ± 0.3; p = 0.021). The CrCl level was not significantly different between the GHGr and CGr at either at study initiation or when attaining near-adult height (p = 0.74 and p = 0.23, respectively). CONCLUSIONS: Treatment with rhGH was effective in improving adult height in KTx patients who began treatment in late puberty, without any effect on renal function.

Peritoneal Dialysis Access Revision in Children: Causes, Interventions, and Outcomes.

BACKGROUND AND OBJECTIVES: Little published information is available about access failure in children undergoing chronic peritoneal dialysis. Our objectives were to evaluate frequency, risk factors, interventions, and outcome of peritoneal dialysis access revision. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Data were derived from 824 incident and 1629 prevalent patients from 105 pediatric nephrology centers enrolled in the International Pediatric Peritoneal Dialysis Network Registry between 2007 and 2015. RESULTS: In total, 452 access revisions were recorded in 321 (13%) of 2453 patients over 3134 patient-years of follow-up, resulting in an overall access revision rate of 0.14 per treatment year. Among 824 incident patients, 186 (22.6%) underwent 188 access revisions over 1066 patient-years, yielding an access revision rate of 0.17 per treatment year; 83% of access revisions in incident patients were reported within the first year of peritoneal dialysis treatment. Catheter survival rates in incident patients were 84%, 80%, 77%, and 73% at 12, 24, 36, and 48 months, respectively. By multivariate logistic regression analysis, risk of access revision was associated with younger age (odds ratio, 0.93; 95% confidence interval, 0.92 to 0.95; P<0.001), diagnosis of congenital anomalies of the kidney and urinary tract (odds ratio, 1.28; 95% confidence interval, 1.03 to 1.59; P=0.02), coexisting ostomies (odds ratio, 1.42; 95% confidence interval, 1.07 to 1.87; P=0.01), presence of swan neck tunnel with curled intraperitoneal portion (odds ratio, 1.30; 95% confidence interval, 1.04 to 1.63; P=0.02), and high gross national income (odds ratio, 1.10; 95% confidence interval, 1.02 to 1.19; P=0.01). Main reasons for access revisions included mechanical malfunction (60%), peritonitis (16%), exit site infection (12%), and leakage (6%). Need for access revision increased the risk of peritoneal dialysis technique failure or death (hazard ratio, 1.35; 95% confidence interval, 1.10 to 1.65; P=0.003). Access dysfunction due to mechanical causes doubled the risk of technique failure compared with infectious causes (hazard ratio, 1.95; 95% confidence interval, 1.20 to 2.30; P=0.03). CONCLUSIONS: Peritoneal dialysis catheter revisions are common in pediatric patients on peritoneal dialysis and complicate provision of chronic peritoneal dialysis. Attention to potentially modifiable risk factors by pediatric nephrologists and pediatric surgeons should be encouraged.

Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.

BACKGROUND AND OBJECTIVES: Atypical hemolytic uremic syndrome is characterized by vascular endothelial damage caused by complement dysregulation. Consistently, complement inhibition therapies are highly effective in most patients with atypical hemolytic uremic syndrome. Recently, it was shown that a significant percentage of patients with early-onset atypical hemolytic uremic syndrome carry mutations in diacylglycerol kinase-ε, an intracellular protein with no obvious role in complement. These data support an alternative, complement-independent mechanism leading to thrombotic microangiopathy that has implications for treatment of early-onset atypical hemolytic uremic syndrome. To get additional insights into this new form of atypical hemolytic uremic syndrome, the diacylglycerol kinase-ε gene in a cohort with atypical hemolytic uremic syndrome was analyzed. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Eighty-three patients with early-onset atypical hemolytic uremic syndrome (<2 years) enrolled in the Spanish atypical hemolytic uremic syndrome registry between 1999 and 2013 were screened for mutations in diacylglycerol kinase-ε. These patients were also fully characterized for mutations in the genes encoding factor H, membrane cofactor protein, factor I, C3, factor B, and thrombomodulin CFHRs copy number variations and rearrangements, and antifactor H antibodies. RESULTS: Four patients carried mutations in diacylglycerol kinase-ε, one p.H536Qfs*16 homozygote and three compound heterozygotes (p.W322*/p.P498R, two patients; p.Q248H/p.G484Gfs*10, one patient). Three patients also carried heterozygous mutations in thrombomodulin or C3. Extensive plasma infusions controlled atypical hemolytic uremic syndrome recurrences and prevented renal failure in the two patients with diacylglycerol kinase-ε and thrombomodulin mutations. A positive response to plasma infusions and complement inhibition treatment was also observed in the patient with concurrent diacylglycerol kinase-ε and C3 mutations. CONCLUSIONS: Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-ε mutations and that treatments on the basis of plasma infusions and complement inhibition are potentially useful in patients with combined diacylglycerol kinase-ε and complement mutations. A comprehensive understanding of the genetic component predisposing to atypical hemolytic uremic syndrome is, therefore, critical to guide an effective treatment.

Acute dialysis-associated peritonitis in children with D+ hemolytic uremic syndrome.

Acute peritoneal dialysis (PD) is the preferred therapy for renal replacement in children with post-diarrheal hemolytic uremic syndrome (D+ HUS), but peritonitis remains a frequent complication of this procedure. We reviewed data from 149 patients with D+ HUS who had undergone acute PD with the aim of determining the prevalence and risk factors for the development of peritonitis. A total of 36 patients (24.2%) presented peritonitis. The median onset of peritonitis manifestations was 6 (range 2-18) days after the initiation of dialysis treatment, and Gram-positive microorganisms were the predominant bacterial type isolated (15/36 patients). The patients were divided into two groups: with or without peritonitis, respectively. Univariate analysis revealed that a longer duration of the oligoanuric period, more days of dialysis, catheter replacement, stay in the intensive care unit, and hypoalbuminemia were significantly associated to the development of peritonitis. The multivariate analysis, controlled by duration of PD, identified the following independent risk factors for peritonitis: catheter replacement [p = 0.037, odds ratio (OR) 1.33, 95% confidence interval (CI) 1.02-1.73], stay in intensive care unit (p = 0.0001, OR 2.62, 95% CI 1.65-4.19), and hypoalbuminemia (p = 0.0076, OR 1.45, 95% CI 1.10-1.91). Based on these findings, we conclude that the optimization of the aseptic technique during catheter manipulation and early nutritional support are targets for the prevention of peritonitis, especially in critically ill patients.

Patología nefrourológica en niñas con síndrome de Turner / Nephrourologic pathology in girls with Turner syndrome

Las malformaciones nefrourológicas en el síndrome de Turner son frecuentes, por lo que su diagnóstico y seguimiento son importantes para disminuir la morbilidad de esta entidad. El objetivo de este trabajo retrospectivo fue analizar la patología nefrourológica en 72 niñas con síndrome de Turner atendidas entre 1989 y 2008 en el Hospital Garrahan. La prevalencia de patología nefrourológica fue del 33% (24 pacientes). Predominaron las anomalías del sistema urinario aisladas (10 pacientes, 42%) o asociadas a malformaciones renales (9 pacientes, 37%); 5 pacientes (21%) tuvieron anomalías estructurales renales aisladas. El 50% presentó complicaciones (8 infección urinaria, 2 proteinuria y 2 hipertensión arterial).

Nephrourologic malformations in Turner syndrome are frequent, its diagnosis and follow-up is important in order todiminish the morbidity of this disease. The aim of this retrospective study was to analyze the nephrourologic pathologyin 72 girls with Turner syndrome followed between 1989 and 2008 at Garrahan Hospital. The prevalence of nephrourologic involvement was 33% (24 patients). The most frequent findings were urinary system malformations, isolated (10 pacientes,42%) or associated with renal malformations (9 patients, 37%); 5 patients (21%) had only renal malformations. Fifty percent of patients developed complications (8 urinary tractinfection, 2 proteinuria and 2 arterial hypertension); however, none progressed to chronic renal failure. The prevalence of nephrourologic involvement was 33% and a half of these girls developed complications, our findings show the need of routine nephrological follow-up of girls with Turner syndrome and nephrourologic malformations.

Patología nefrourológica en niñas con síndrome de Turner / Nephrourologic pathology in girls with Turner syndrome

Las malformaciones nefrourológicas en el síndrome de Turner son frecuentes, por lo que su diagnóstico y seguimiento son importantes para disminuir la morbilidad de esta entidad. El objetivo de este trabajo retrospectivo fue analizar la patología nefrourológica en 72 niñas con síndrome de Turner atendidas entre 1989 y 2008 en el Hospital Garrahan. La prevalencia de patología nefrourológica fue del 33% (24 pacientes). Predominaron las anomalías del sistema urinario aisladas (10 pacientes, 42%) o asociadas a malformaciones renales (9 pacientes, 37%); 5 pacientes (21%) tuvieron anomalías estructurales renales aisladas. El 50% presentó complicaciones (8 infección urinaria, 2 proteinuria y 2 hipertensión arterial).(AU)

Nephrourologic malformations in Turner syndrome are frequent, its diagnosis and follow-up is important in order todiminish the morbidity of this disease. The aim of this retrospective study was to analyze the nephrourologic pathologyin 72 girls with Turner syndrome followed between 1989 and 2008 at Garrahan Hospital. The prevalence of nephrourologic involvement was 33% (24 patients). The most frequent findings were urinary system malformations, isolated (10 pacientes,42%) or associated with renal malformations (9 patients, 37%); 5 patients (21%) had only renal malformations. Fifty percent of patients developed complications (8 urinary tractinfection, 2 proteinuria and 2 arterial hypertension); however, none progressed to chronic renal failure. The prevalence of nephrourologic involvement was 33% and a half of these girls developed complications, our findings show the need of routine nephrological follow-up of girls with Turner syndrome and nephrourologic malformations.(AU)

[Nephrourologic pathology in girls with Turner syndrome]. / Patología nefrourológica en niñas con síndrome de Turner.

Nephrourologic malformations in Turner syndrome are frequent, its diagnosis and follow-up is important in order to diminish the morbidity of this disease. The aim of this retrospective study was to analyze the nephrourologic pathology in 72 girls with Turner syndrome followed between 1989 and 2008 at Garrahan Hospital. The prevalence of nephrourologic involvement was 33% (24 patients). The most frequent findings were urinary system malformations, isolated (10 pacientes, 42%) or associated with renal malformations (9 patients, 37%); 5 patients (21%) had only renal malformations. Fifty percent of patients developed complications (8 urinary tract infection, 2 proteinuria and 2 arterial hypertension); however, none progressed to chronic renal failure. The prevalence of nephrourologic involvement was 33% and a half of these girls developed complications, our findings show the need of routine nephrological follow-up of girls with Turner syndrome and nephrourologic malformations.