Acute peritoneal dialysis, complications and outcomes in 389 children with STEC-HUS: a multicenter experience.

BACKGROUND: Management of acute kidney injury (AKI) in children with hemolytic uremic syndrome induced by a Shiga toxin-producing Escherichia coli infection (STEC-HUS) is supportive; however, 40 to 60% of cases need kidney replacement therapy (KRT). The aim of this study was to analyze procedure complications, especially peritonitis, and clinical outcomes in children with AKI secondary to STEC-HUS treated with acute PD. METHODS: This is a multicenter retrospective study conducted among thirty-seven Argentinian centers. We reviewed medical records of 389 children with STEC-HUS hospitalized between January 2015 and February 2019 that required PD. RESULTS: Complications associated with PD were catheter malfunction (n = 93, 24%), peritonitis (n = 75, 19%), fluid leaks (n = 45, 11.5%), bleeding events (n = 23, 6%), and hyperglycemia (n = 8, 2%). In the multivariate analysis, the use of antibiotic prophylaxis was independently associated with a decreased risk of peritonitis (hazard ratio 0.49, IC 95% 0.29-0.81; p = 0.001), and open-surgery catheter insertion was independently associated with a higher risk (hazard ratio 2.8, IC 95% 1.21-6.82; p = 0.001). Discontinuation of PD due to peritonitis, severe leak, or mechanical complications occurred in 3.8% of patients. No patient needed to be transitioned to other modality of KRT due to inefficacy of the technique. Mortality during the acute phase occurred in 2.8% patients due to extrarenal complications (neurological and cardiac involvement), not related to PD. CONCLUSIONS: Acute PD was a safe and effective method to manage AKI in children with STEC-HUS. Prophylactic antibiotics prior to insertion of the PD catheter should be considered to decrease the incidence of peritonitis.

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease. METHODS: A retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases. RESULTS: All patients except one demonstrated at least one symptom of Fabry disease. LysoGb3 levels were above the normal range in all patients. Podocyturia was documented in all patients. Kidney biopsy revealed glomerular, interstitial, vascular, and tubular changes on light microscopy in nearly all patients. Electron microscopy showed podocyte inclusions in all patients. CONCLUSIONS: No difference in symptomatology was discernible between boys and girls. Podocyturia was detectable in children serving as a possible early marker of kidney injury. LysoGb3 was elevated in all cases, emphasizing the importance for diagnosis especially in female patients with normal αGal A activity. A possible association between lysoGb3 and symptom severity and histological involvement in kidney biopsy should be assessed in prospective studies with enough statistical power to determine if lysoGb3 can be used to predict nephropathy in children with Fabry disease.

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.

There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Thirty-three patients completed 24-months follow-up after the switch (age 32.4 ± 2.0, range 10.0-55.9 years; male: female 23:10). Measures of renal function such as estimated glomerular filtration rate remained almost unchanged in 31 patients without end stage renal disease over the 2 years after switching and urine protein excretion continued stable. Cardiac functional parameters: left ventricular mass index, interventricular septum, left ventricular posterior wall showed no significant change from baseline in the 33 patients. Quality of life, pain and disease severity scores were mostly unchanged after 24-months and agalsidase alfa was generally well tolerated. Our findings showed there is no significant change in the efficacy measured through the renal or cardiac function, quality of life, pain, disease severity scoring and safety for at least 2 years after switching from agalsidase beta to agalsidase alfa.

[Guidelines for diagnosis, monitoring and treatment of Fabry disease]. / Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

[Tumor lysis syndrome after the administration of corticosteroids in an adolescent without confirmed neoplastic disease. Case Reports]. / Síndrome de lisis tumoral secundario a la administración de corticoides en una adolescente sin enfermedad neoplásica confirmada: reporte de un caso.

Tumor lysis syndrome is a potentially lethal complication and constitutes with infections the most frequent oncological emergency. In children, this condition can be secondary to neoplastic diseases, with corticosteroids being a triggering factor. This paper presents the case of an adolescent patient, without known or obvious neoplasms, who developed a tumor lysis syndrome after the administration of corticosteroids due to suspected respiratory infection. The clinical presentation and differential diagnoses are discussed. Special focus is placed on the administration of corticosteroids in clinical conditions with weak scientific evidence. The use of systemic corticosteroids in acute respiratory infections should be evaluated in the clinical context and only indicated in situations with proven effectiveness.

El síndrome de lisis tumoral es una complicación potencialmente letal y constituye, junto con las infecciones, la emergencia oncológica más frecuente. En pediatría, este cuadro puede ser secundario a enfermedades neoplásicas, y los corticoides son un factor desencadenante. En este trabajo se presenta el caso de una paciente adolescente, sin neoplasias conocidas o evidentes, que desarrolló un síndrome de lisis tumoral luego de la administración de corticoides por sospecha de una infección respiratoria. Se discute la forma de presentación y los diagnósticos diferenciales del cuadro clínico inicial. Se hace especial foco en la administración de corticoides en cuadros clínicos en los que no existe evidencia científica que respalde fuertemente su indicación. El uso de corticosteroides sistémicos en infecciones respiratorias agudas debe ser evaluado en el contexto clínico y solo debe indicarse en situaciones con probada efectividad.

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.

Síndrome de lisis tumoral secundario a la administración de corticoides en una adolescente sin enfermedad neoplásica confirmada: reporte de un caso / Tumor lysis syndrome after the administration of corticosteroids in an adolescent without confirmed neoplastic disease. Case report

El síndrome de lisis tumoral es una complicación potencialmente letal y constituye, junto con las infecciones, la emergencia oncológica más frecuente. En pediatría, este cuadro puede ser secundario a enfermedades neoplásicas, y los corticoides son un factor desencadenante. En este trabajo se presenta el caso de una paciente adolescente, sin neoplasias conocidas o evidentes, que desarrolló un síndrome de lisis tumoral luego de la administración de corticoides por sospecha de una infección respiratoria. Se discute la forma de presentación y los diagnósticos diferenciales del cuadro clínico inicial. Se hace especial foco en la administración de corticoides en cuadros clínicos en los que no existe evidencia científica que respalde fuertemente su indicación. El uso de corticosteroides sistémicos en infecciones respiratorias agudas debe ser evaluado en el contexto clínico y solo debe indicarse en situaciones con probada efectividad.

Tumor lysis syndrome is a potentially lethal complication and constitutes with infections the most frequent oncological emergency. In children, this condition can be secondary to neoplastic diseases, with corticosteroids being a triggering factor. This paper presents the case of an adolescent patient, without known or obvious neoplasms, who developed a tumor lysis syndrome after the administration of corticosteroids due to suspected respiratory infection.The clinical presentation and differential diagnoses are discussed. Special focus is placed on the administration of corticosteroids in clinical conditions with weak scientific evidence. The use of systemic corticosteroids in acute respiratory infections should be evaluated in the clinical context and only indicated in situations with proven effectiveness.

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.

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with fabry disease in Latin America

There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Thirty-three patients completed 24-months follow-up after the switch (age 32.4 ± 2.0, range 10.0-55.9 years; male: female 23:10). Measures of renal function such as estimated glomerular filtration rate remained almost unchanged in 31 patients without end stage renal disease over the 2 years after switching and urine protein excretion continued stable. Cardiac functional parameters: left ventricular mass index, interventricular septum, left ventricular posterior wall showed no significant change from baseline in the 33 patients. Quality of life, pain and disease severity scores were mostly unchanged after 24-months and agalsidase alfa was generally well tolerated. Our findings showed there is no significant change in the efficacy measured through the renal or cardiac function, quality of life, pain, disease severity scoring and safety for at least 2 years after switching from agalsidase beta to agalsidase alfa.

Actualmente hay disponibles dos terapias de reemplazo enzimático en enfermedad de Fabry y existe poca información sobre la eficacia y seguridad del cambio de una a la otra. Entre 2009 y 2012 hubo falta a nivel mundial de agalsidasa beta y los pacientes tratados hasta entonces con esa enzima iniciaron tratamiento con agalsidasa alfa. El presente estudio retrospectivo, observacional evaluó la eficacia y seguridad a 2 años en pacientes con enfermedad de Fabry en Argentina (30 pacientes) y Venezuela (3 pacientes), que cambiaron su tratamiento de agalsidasa beta a agalsidasa alfa. Treinta y tres pacientes completaron 24 meses de seguimiento post-cambio (edad 32.4 ± 2.0; rango 10.0-55.9; hombre: mujer 23:10). La función renal, medida con la tasa de filtrado glomerular, se mantuvo sin cambios en 31 pacientes sin enfermedad renal terminal durante 2 años post-cambio. La secreción de proteína en orina continuó estable. Los parámetros de función cardíaca -índice de masa ventricular izquierda, septum interventricular, espesor de la pared posterior ventricular- no mostraron cambios significativos post-cambio de terapia en los 33 pacientes. La calidad de vida, el dolor y la gravedad de la enfermedad se mantuvieron mayormente estables luego de 24 meses, y la agalsidasa alfa fue generalmente bien tolerada. Nuestros resultados muestran que no hay cambios significativos en la eficacia medida por la función renal y cardíaca, en la seguridad y en los valores de la calidad de vida, el dolor o la gravedad de la enfermedad durante al menos 2 años luego del cambio de agalsidasa beta a agalsidasa alfa.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.(AU)

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.(AU)

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. / [Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.