Research progress of extracellular vesicles in the treatment of renal disease / 生理学报

Extracellular vesicles (EVs) are lipid bilayer-enclosed structures containing diverse bioactive cargoes that play a major role in intercellular communication in both physiological and pathological conditions. Currently, the field of EV-based therapy has been rapidly growing, and two main therapeutic uses of EVs can be surmised: (i) exploiting stem cell-derived EVs as therapeutic agents; and (ii) employing EVs as natural therapeutic vectors for drug delivery. This review will discuss the recent advances in EV-based therapy in the treatment of renal disease.

Covid-19 pandemic: from carnival masks to surgical masks / Pandemia covid-19: das máscaras de carnaval às máscaras cirúrgicas

Abstract Given the high transmissibility of SARS-CoV-2, COVID-19 pandemic has a huge impact on our health system. Even in developed countries, strategic resources soon become insufficient. Although people over 60 and with comorbidities are at greater risk of developing severe forms, younger people may also require precious and scarce care. Hence, the World Health Organization recommend tests - PCR and serological tests - for detecting infected people on a large scale. The most common symptoms are fever, fatigue, dry cough, anorexia, myalgia, and dyspnea, with tomographic pulmonary findings being frequent even in asymptomatic cases. The Brazilian Society of Nephrology has published guidelines for the management of hypertensive, diabetic, dialysis, and transplant patients. In its alerts, care and precautions in dialysis units are also being detailed, both for the health team and for the patients. Although important renal manifestations are not yet evident in the admission of positive cases, recent studies with renal patients and performed in nephrology services are listed here. This pandemic lead us to learn from its progress in order to face new challenges in dialysis clinics, transplant services, and intensive care services.

Resumo Dada a elevada transmissibilidade do SARS-CoV-2, a pandemia de covid-19 causa enorme impacto no Sistema de Saúde. Mesmo em países do primeiro mundo, recursos estratégicos logo se tornam insuficientes. Ainda que pessoas acima de 60 anos e portadores de comorbidades, como hipertensão, corram maior risco de desenvolver formas graves, os mais jovens também podem requerer cuidados preciosos e escassos. Daí a Organização Mundial da Saúde recomendar testes - PCR e sorológicos - para detecção de infectados em larga escala. Sintomas mais comuns são febre, fadiga, tosse seca e dispneia, sendo frequente o achado tomográfico de manifestações pulmonares, mesmo em casos assintomáticos. A Sociedade Brasileira de Nefrologia tem divulgado diretrizes para manejo de pacientes hipertensos, dialíticos e transplantados. Em seus alertas, cuidados e precauções em unidades de diálise também estão sendo detalhados, tanto para a equipe de saúde como para os pacientes. Embora ainda não se evidenciem manifestações renais importantes na admissão dos casos positivos, são arrolados aqui estudos recentes com pacientes renais e realizados em serviços de nefrologia. Essa pandemia nos obriga a aprender com seu avanço, a fim de enfrentarmos novos desafios nas clínicas de diálise, nos serviços de transplante e de terapia intensiva.

Profile of renal artery embolization (RAE) for renal trauma: A comparison of data from two major trauma center

ABSTRACT Objective To evaluate usage of renal artery embolization (RAE) for renal injuries and discuss the indications for this treatment. Materials and Methods A retrospective study was performed evaluating the electronic medical records of all patients with renal trauma admitted to two major comprehensive hospitals in Shantou city from January 2006 to December 2015. Results There were 264 and 304 renal traumatic patients admitted to hospital A and B, respectively. LGRT was the reason for presentation in the majority of patients (522, 91.9%). A total of 534 (94.0%) patients were treated conservatively. RAE was performed in 9 patients from 2012 to 2015 at hospital A, including in 6 patients (6/9, 66.7%) with LGRT, and 3 patients (3/9, 33.3%) with HGRT. No patient underwent interventional therapy (RAE) at hospital B during the same period. No significant differences in the operative rate of hospital A were observed between the two time periods (2006-2011 and 2012-2015). The operative rate for LGRT between the two hospitals from 2006 to 2011 and 2012 to 2015 was not significantly different. Hospital A showed a significant decrease in the rate of conservative treatment for patients with LGRT. In the univariate and multivariate analyses, the AAST renal grade both were significantly associated with undergoing RAE. Conclusions LGRT was present in the majority of patients, and most cases of renal trauma could be treated with conservative treatment. RAE was well utilized for the treatment of renal trauma. However, some patients with LGRT were treated with unnecessary interventional therapy.

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.

Recommendations of the brazilian society of nephrology regarding pediatric patients on renal replacement therapy during the covid-19 pandemic / Recomendações da sociedade brasileira de nefrologia para pacientes pediátricos em terapia de substituição renal durante a pandemia de covid-19

ABSTRACT Introduction The impact of the new coronavirus (SARS-COV-2) and its worldwide clinical manifestations (COVID-19) imposed specific regional recommendations for populations in need of specialized care, such as children and adolescents with kidney diseases, particularly in renal replacement therapies (RRT). We present the recommendations of the Brazilian Society of Nephrology regarding the treatment of pediatric patients with kidney diseases during the COVID-19 pandemic. Methods Articles and documents from medical societies and government agencies on specific recommendations for children on RRT in relation to COVID-19 as well as those focused on epidemiological aspects of this condition in Brazil Were evaluated and analyzed. Results We present recommendations on outpatient care, transportation to dialysis centers, peritoneal dialysis, hemodialysis, and kidney transplantation in children and adolescents during the COVID-19 pandemic in Brazil. Discussion Despite initial observations of higher mortality rates in specific age groups (the elderly) and with comorbidities (obese, diabetics, and those with cardiovascular diseases), patients with chronic kidney disease (CKD) on RRT are particularly prone to develop COVID-19. Specific measures must be taken to reduce the risk of contracting SARS-CoV-2 and developing COVID-19, especially during transport to dialysis facilities, as well as on arrival and in contact with other patients.

RESUMO Introdução O impacto do novo coronavírus (SARS-CoV-2) e as suas manifestações clínicas (Covid-19) em todo o mundo impôs recomendações regionais específicas a populações que necessitam de cuidados especializados, como crianças e adolescentes com doenças renais, particularmente em terapias de substituição renal (TRS). Apresentamos as recomendações da Sociedade Brasileira de Nefrologia em relação ao tratamento de pacientes pediátricos com doenças renais durante a pandemia Covid-19. Método Foram avaliados e analisados os artigos e documentos sobre recomendações específicas para Covid-19 de sociedades médicas e órgãos governamentais sobre crianças em TRS, bem como aqueles focados em aspectos epidemiológicos dessa condição no Brasil. Resultados Apresentamos as recomendações sobre atendimento ambulatorial, transporte para centros de diálise, diálise peritoneal, hemodiálise e transplante renal em crianças e adolescentes durante a pandemia de Covid-19 no Brasil. Discussão Apesar das observações iniciais de taxas de mortalidade mais altas em grupos etários específicos (idosos) e com comorbidades (obesos, diabéticos e aqueles com doenças cardiovasculares), pacientes com doença renal crônica (DRC) em TRS apresentam risco significativo de evoluir com Covid-19. Medidas específicas devem ser tomadas para reduzir o risco de contrair SARS-CoV-2 e desenvolver a Covid-19, principalmente durante o transporte para instalações de diálise, bem como na chegada e no contato com outros pacientes.

COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic / Recomendações do COMDORA-SBN a pacientes portadores de doenças renais raras em relação à pandemia de Covid-19

ABSTRACT During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.

RESUMO Durante a pandemia da Covid-19, fica a questão de como manter o atendimento adequado aos portadores de outras doenças. O Comitê de Doenças Raras (COMDORA) da SBN neste documento dá algumas orientações ao atendimento de pacientes com doenças renais raras. Estes pacientes devem seguir as recomendações destinadas à população geral tendo em mente que, por serem portadores de doença renal crônica, estão incluídos no grupo de risco para desfechos mais graves, caso venham a desenvolver a Covid-19. Procedimentos não essenciais para tomada de decisão devem ser adiados. Deve-se optar por contatos a distância, como teleconsultas, e coletas de exames domiciliares (se possível) nos casos estáveis sob tratamento adequado. Na presença de sintoma ou sinal de descompensação da doença de base ou infecção pelo Sars-cov-2, orientar o paciente a procurar a equipe médica. O paciente não deve ficar esperando o quadro agravar-se. Alterações na prescrição só devem ser feitas com embasamento científico. Não se recomenda a suspensão ou alteração posológica, mesmo nos casos em que o paciente necessita ir a um centro para receber sua medicação; neste caso o centro de infusão deve seguir as recomendações do Ministério da Saúde. Caso o paciente desenvolva a Covid-19 e faça uso de alguma droga, verificar a necessidade de ajuste nas doses dos medicamentos rotineiros. Evitar o uso de antimetabólicos e antiCD20 nos pacientes com a Covid-9, por reduzirem o clareamento viral e predisporem a infecções bacterianas. O contato entre paciente e equipe médica é essencial; alterações são recomendadas apenas com orientação médica especializada.

Pathogenesis, histopathologic findings and treatment modalities of lipoprotein glomerulopathy: A review / Patogênese, achados histopatológicos e modalidades de tratamento da glomerulopatia por lipoproteínas: Uma revisão

Abstract Lipoprotein glomerulopathy (LPG) is an uncommon cause of nephrotic syndrome and/or kidney failure. At microscopy, LPG is characterized by the presence of lipoprotein thrombi in dilated glomerular capillaries due to different ApoE mutations. ApoE gene is located on chromosome 19q13.2, and can be identified in almost all serum lipoproteins. ApoE works as a protective factor in atherosclerosis due its interaction with receptor-mediated lipoprotein clearance and cholesterol receptor. Most common polymorphisms include ApoE2/2, ApoE3/2, ApoE3/3, ApoE4/2, ApoE4/3, and ApoE4/4. All age-groups can be affected by LPG, with a discrete male predominance. Compromised patients typically reveal dyslipidemia, type III hyperlipoproteinemia, and proteinuria. LPG treatment includes fenofibrate, antilipidemic drugs, steroids, LDL aphaeresis, plasma exchange, antiplatelet drugs, anticoagulants, urokinase, and renal transplantation. Recurrence in kidney graft suggests a pathogenic component(s) of extraglomerular humoral complex resulting from abnormal lipoprotein metabolism and presumably associated to ApoE.

Resumo A glomerulopatia por lipoproteínas (GLP) é uma patologia rara que causa síndrome nefrótica e/ou insuficiência renal. Na microscopia, a GLP é caracterizada pela presença de trombos de lipoproteínas em capilares glomerulares dilatados devido a diferentes mutações no gene da ApoE. O gene da ApoE está localizado no cromossomo 19q13.2 e pode ser identificado em quase todas as lipoproteínas séricas. A ApoE age como fator de proteção na arterioesclerose por conta de sua interação com a depuração de lipoproteínas mediada por receptores e com o receptor de colesterol. Dentre os polimorfismos mais comuns destacam-se ApoE2/2, ApoE3/2, ApoE3/3, ApoE4/2, ApoE4/3 e ApoE4/4. A GLP pode acometer indivíduos de todas as faixas etárias, com discreta predominância do sexo masculino. Pacientes afetados tipicamente apresentam dislipidemia, hiperlipoproteinemia tipo III e proteinúria. O tratamento da GLP é conduzido com fenofibrato, antilipêmicos, corticosteroides, LDL-aferese, troca de plasma, antiplaquetários, anticoagulantes, uroquinase e transplante renal. Recidiva no enxerto renal indica a existência de componentes patogênicos do complexo humoral extraglomerular resultante de metabolismo lipoproteico anômalo, possivelmente associado a ApoE.

Plasmaféresis, experiencia del Hospital Regional de Talca en pacientes con indicaciones nefrológicas / Plasmapheresis, experience of the Regional Hospital of Talca, in patients with nephrological indications

INTRODUCTION: Plasmapheresis is an extracorporeal procedure that allows the plasma to be separated from the figurative elements of the blood, removing specific elements involved in pathological processes. OBJECTIVE: To show the experience of the Regional Hospital of Talca (HRT) in the use of Plasmapheresis from 2017 to March 2019. METHODS: Corresponds to a retrospective study of all patients undergoing plasmapheresis from January 2017 to March 2019 (27 months). The clinical profile of this group of patients is analyzed, emphasizing in the nephrological etiologies and showing the clinical evolution of the diseases submitted to this procedure and aspects such as number of sessions, complications and associated therapies. RESULTS: In this period 14 patients have required plasmapheresis in our center, 9 cases for renal causes (64.2%) and 5 for non-renal causes (35.7%). A deceased was recorded during the acute stage of the disease (7.14%), in the context of a negative antineutrophil cytoplasmic antibody (ANCA) in patient with pulmonary-renal syndrome. 78% of those who needed plasmapheresis for renal etiologies are on hemodialysis at the end of the work. The clinical improvement experienced in the majority of the cases studied allows us to attribute a beneficial effect of plasmapheresis.

Obstáculos y estrategias de afrontamiento en la atención renal: estudio cualitativo en jóvenes con enfermedad renal crónica en diálisis peritoneal / Obstacles and coping strategies in renal care: a qualitative study in young people with chronic kidney disease in peritoneal dialysis

Resumen Este trabajo se propone identificar los obstáculos que enfrentan individuos jóvenes en tratamiento de diálisis peritoneal, así como examinar las estrategias de afrontamiento que utilizan en la atención renal. Para ello, se llevó a cabo un estudio cualitativo desde una perspectiva crítico-interpretativa. Participaron 12 jóvenes con insuficiencia renal y en tratamiento de diálisis peritoneal, viviendo en Guadalajara, México. Mediante un muestreo por bola de nieve, se seleccionaron siete hombres y cinco mujeres. La información se obtuvo mediante entrevistas narrativas y observación participante, además de conversaciones en WhatsApp y Facebook. Se hizo análisis de contenido. Además del consentimiento informado, se aseguró el anonimato y la confidencialidad de la información. Los resultados desvelan cuatro ejes temáticos que emergen del análisis de la información: Enfrentando dificultades económicas, Viviendo las deficiencias de los servicios de salud, Interferencias en la comunicación con los profesionales sanitarios y En búsqueda permanente de estrategias. Múltiples estrategias se emplean para enfrentar los problemas económicos, la falta de información y el control emocional. Se observó que la falta de recursos económicos es el principal obstáculo que enfrentan los jóvenes en diálisis. Estos jóvenes impulsan estrategias, junto con familiares y sus pares, para afrontar las dificultades.

Abstract This study aims at identifying the obstacles faced by young individuals on peritoneal dialysis treatment, as well as to examine the coping strategies they use in renal care. A qualitative study was carried out from a critical-interpretative approach. Participants were 12 young people with kidney failure, under peritoneal dialysis treatment, who lived in Guadalajara, Mexico. Using a snowball sampling, seven men and five women were selected. The data was obtained through narrative interviews and participant observation, as well as conversations on WhatsApp and Facebook. Content analysis was conducted. In addition to informed consent, anonymity and confidentiality of the information were ensured. Four main themes emerged from data analysis: Facing economic difficulties, Living the health services deficiencies, Interference in communication with health professionals, and The permanent search for strategies. Several strategies are used mainly to solve economic problems, lack of information and emotional control. Lack of economic resources is the main obstacle faced by young people under dialysis treatment. Young people employ strategies together with family members and their peers to face the difficulties encountered.

Compromiso renal en vasculitis asociadas a anticuerpos anticitoplasma de neutrófilos. Recomendaciones de consenso de las Sociedades Chilenas de Nefrología y Reumatología / Renal involvement in antineutrophil cytoplasmic antibodies (ANCA) associated vasculitides. Recommendations of the Chilean Societies of Nephrology and Rheumatology

Renal involvement is a frequent complication in antineutrophil cytoplasmic antibodies (ANCA)associated vasculitides, adding morbidity and mortality, such as chronic kidney disease and the need for renal replacement therapy. With the aim of reaching a consensus on relevant issues regarding the diagnosis, treatment and follow-up of patients with these diseases, the Chilean Societies of Nephrology and Rheumatology formed a working group that, based on a critical review of the available literature and their experience, raised and answered consensually a set of questions relevant to the subject. This document includes aspects related to the clinical diagnosis, the histological characteristics, the therapeutic alternatives to induce and maintain the remission of the disease, relapse surveillance strategies and complementary therapies.

What we know and do not know about women and kidney diseases; Questions unanswered and answers unquestioned: Reflection on World Kidney Day and International Woman's Day

Chronic kidney disease affects approximately 10% of the world's adult population: it is within the top 20 causes of death worldwide, and its impact on patients and their families can be devastating. World Kidney Day and International Women's Day in 2018 coincide, thus offering an opportunity to reflect on the importance of women's health and specifically women's kidney health on the community and the next generations, as well as to strive to be more curious about the unique aspects of kidney disease in women so that we may apply those learnings more broadly. Girls and women, who make up approximately 50% of the world's population, are important contributors to society and their families. Gender differences continue to exist around the world in access to education, medical care, and participation in clinical studies. Pregnancy is a unique state for women, offering an opportunity for diagnosis of kidney disease, but also a state in which acute and chronic kidney diseases may manifest, and which may impact future generations with respect to kidney health. Various autoimmune and other conditions are more likely to impact women, with profound consequences for child bearing and the fetus. Women have different complications on dialysis than men, and are more likely to be donors than recipients of kidney transplants. In this editorial, we focus on what we know and do not know about women, kidney health, and kidney disease, and what we might learn in the future to improve outcomes worldwide.

Congenital renal arteriovenous fistula complicated with multiple renal arteries malformation: case analysis / 北京大学学报(医学版)

Congenital renal arteriovenous fistula complicated with multiple renal arteries malformation is rare and hard to diagnose at early stage. Blood loss and complications after embolization are both severe. Some cases can be diagnosed by ultrasound, enhanced CT scan or digital subtraction angiography (DSA). Cystoscopy and ureteroscopy can identify the location of bleeding, exclude tumors, and discharge ureteral obstruction. A case of congenital renal arteriovenous fistula complicated with multiple renal arteries malformation was reported to investigate the pathogenesis, clinical characteristics, diagnosis and treatment of congenital renal arteriovenous fistula with multiple renal arteries malformation. A 36-year-old female patient with congenital renal arteriovenous fistula with multiple renal arteries malformation was hospitalized in the Department of Urology of Peking University People's Hospital. Five days before admission, the patient experienced whole course painless gross hematuria for 5 days with many blood clots. The patient's blood pressure was 90/70 mmHg, and hemoglobin was 60 g/L. The urinary CT scan showed a right hydronephrosis associated with dilatation of the upper ureter which was obstructed by space occupying lesion of the lower ureter. Many clots in the bladder could also be found in the CT scan. Cystoscopy showed many blood clots in the bladder and confirmed that the bleeding was fromthe right ureteral orifice. Ureteroscopy confirmed that the bleeding was from the right renal pelvis and many blood clots in the right ureter, and found no tumor in the right ureter and renal pelvis. We cleared the blood clots in the right ureter and inserted a ureteral stent.We thought that renal vascular malformation of the right kidney might lead to the hematuria from right renal pelvis. DSA showed a double renal arteries malformation in the right kidney. The diagnosis of "renal arteriovenous fistula" was considered with renal arteriovenous fistula in the right kidney. Selective arteriography revealed the presence of tortuous, coiled, dilated, and multichannelled vessels in the middle of the right kidney. With stainless steel coils, we embolized the vessels which supplied the fistula. Four days after the procedure, gross hematuria disappeared. Five days after the procedure, the patient's anemia improvedand the patient was discharged in good condition. Four months after the procedure, gross hematuria did not recur. The Doppler showed that the right kidney was normal and the renal dynamic showed that the right kidney function was normal. So DSA is the golden standard for diagnosis of congenital renal arteriovenous fistula complicated with multiple renal arteries malformation. Confirming the number of renal arteries by abdominal aorta angiography is necessary to avoid missed diagnosis. Renal arterial embolization is safe and effective.

Resultados a longo prazo da angioplastia de artérias renais com stent na doença aterosclerótica: revisão sistemática / Long term outcome of renal artery angioplasty with stenting for atherosclerotic stenosis: a systematic review

A doença renovascular aterosclerótica é a principal causa de hipertensão secundária. A história natural da doença demonstra taxas de progressão de 4 a 12% ao ano. Entre os métodos de tratamento existe a angioplastia com stent de artérias renais; porém, poucos estudos clínicos demonstraram seus resultados a longo prazo. Esta revisão sistemática da literatura se propõe a apresentar os resultados a longo prazo (acima de 24 meses) da angioplastia com stent de artérias renais na doença aterosclerótica em relação à função renal e aos níveis pressóricos no controle da hipertensão. Foi realizada uma ampla pesquisa, utilizando os termos apropriados, nas bases de dados LILACS, EMBASE, SCIELO, Cochrane Library e MEDLINE. De um total de 2.170 referências, apenas sete artigos contemplavam todos os critérios de inclusão. Conclui-se que, a longo prazo, há uma estabilização da função renal, redução dos níveis pressóricos e diminuição do número de classes de medicamentos anti-hipertensivos

Atherosclerotic renovascular disease is the most important cause of secondary hypertension. The natural history of the disease reveals progression rates of 4 to 12% per year. Angioplasty with renal artery stenting is one treatment option; but there are few studies that have reported long-term results. The objective of this systematic literature review is to discuss the long-term results (at least 24 months) of angioplasty with stenting of renal arteries for atherosclerotic disease, in terms of renal function and blood pressure levels for control of hypertension. A thorough search was conducted of LILACS, EMBASE, SCIELO, Cochrane Library, and MEDLINE using the appropriate terms. Just seven out of 2170 references identified met all inclusion criteria. It was concluded that over the long term renal function was stabilized, blood pressure levels were reduced, and the number of classes of antihypertensive medication decreased

Compromiso renal en la Enfermedad de Fabry en la edad pediátrica / RENAL INVOLVEMENT IN CHILDREN WITH FABRY'S DISEASE

La Enfermedad de Fabry (EF) es un trastorno hereditario, ligado al cromosoma X, con una incidencia de 1/40.000 nacidos vivos. Se sabe que afecta tanto a varones como a mujeres y sus primeras manifestaciones clínicas comienzan en edades pediátricas. La actividad reducida o nula de la enzima lisosomal alfa-galactosidasa A (α-Gal A), que es la comprometida en la EF, genera la acumulación progresiva de su sustrato, principalmente la globotriosilceramida (Gb3) en las diferentes estirpes celulares de los distintos órganos. El fallo renal es una de las complicaciones serias de la enfermedad.efropatía por Fabry, pese a que la enfermedad está presente desde la infancia, suele manifestarse de forma silente, aún en los estudios clínicos de rutina. Un diagnóstico precoz y oportuno es crucial dado que la demora en el inicio de la terapia de reemplazo enzimático parece no lograr detener la enfermedad renal progresiva. Esta revisión tiene como objetivo proporcionar una actualización de la comprensión actual, los desafíos y las necesidades para abordar mejor las complicaciones renales de la enfermedad de Fabry en niños. Intentar comprender la fisiopatología de éste compromiso puede ayudar a prevenir su progresión

Fabry´s disease is an x-chromosome hereditary disease with an incidence of 1/40000 newborns. Nowadays it is present in males as in females , and its first clinical symptoms are seen in pediatric patients. Patients have reduced or no activity of alpha-galactosidase which leads to progressive accumulation of Gb3 in lysosomes of all types of cells. Renal failure is a serious complication of this disease. Fabry´s nephropathic lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This review aims to provide an update of the current understanding, challenges, and needs to better approach renal complications of Fabry´s disease in children. Trying to understand the pathophysiology of this compromise may help prevent its progression

Severe microscopic polyangiitis with unilateral vocal cord paralysis as initial manifestation / Parálisis unilateral de cuerda vocal como manifestación inicial de poliangitis microscópica grave

Abstract Case Description: A 16 year-old female who presented with initial ear, nose and throat manifestations who later progressed to severe renal disease, requiring hemodialysis after 11 months of unique laryngeal involvement. Clinical Findings: Unilateral vocal cord paralysis without other symptoms or signs, but with positive perinuclear anti-neutrophil cytoplasmic antibodies (ANCA) and anti-myeloperoxidase autoantibodies, followed an unfavorable course months later with rapidly progressive glomerulonephritis. Renal biopsy confirmed an ANCA-associated vasculitis. She was diagnosed with microscopic polyangiitis. Treatment and Outcome: High-dose glucocorticoids, intravenous cyclophosphamide, plasma exchange and finally, hemodialysis and renal transplantation. Clinical Relevance: In contrast to granulomatosis with polyangiitis (Wegener), ear, nose and throat manifestations in microscopic polyangiitis are uncommon, while involvement of the lungs and kidneys are usual. We present a case with an isolated rare involvement, which progressed to severe disease. This atypical case warns about laryngeal symptoms as initial manifestation of an anti-myeloperoxidase positive systemic vasculitides, and emphasizes the relevance of close observation when unexplained isolated conditions with accompanying evidence of autoimmunity, in this case high levels of specific autoantibodies, are present.

Resumen Descripción del caso: Una mujer de 16 años se presentó inicialmente con manifestaciones otorrinolaringológicas y posteriormente progresó hacia enfermedad renal grave, requiriendo hemodiálisis después de 11 meses de tener exclusivamente afección laríngea. Hallazgos clínicos: parálisis de cuerda vocal unilateral sin otros síntomas ni signos, pero con autoanticuerpos anticitoplasma de neutrófilo (ANCA) con patrón perinuclear y especificidad contra mieloperoxidasa, siguiendo un curso desfavorable meses después con desarrollo de glomerulonefritis rápidamente progresiva. La biopsia renal confirmó una vasculitis asociada con ANCA (VAA). Se diagnosticó entonces como poliangitis microscópica. Tratamiento y desenlace: Glucocorticoides a dosis altas, ciclofosfamida endovenosa, recambio plasmático y finalmente, hemodiálisis y transplante renal. Relevancia clínica: en contraste con la granulomatosis con poliangitis (Wegener), las manifestaciones otorrinolaringológicas en poliangitis microscópica son poco comunes, mientras que la afección pulmonar y renal es común. Presentamos un caso con afección inusual aislaea, que progresó a enfermedad grave. Este caso atípico enfatiza sobre los síntomas laríngeos como manifestación inicial de una vasculitis antimieloperoxidasa positiva, y subraya la relevancia de una estrecha observación cuando condiciones aisladas inexplicables, que como en este caso se acompañan de evidencia de autoinmunidad manifestado por presencia de niveles altos de autoanticuerpos, se presentan para su atención.

Enfermedad renal en Colombia: prioridad para la gestión de riesgo / Kidney disease in Colombia: Priority for risk management

RESUMEN Objetivo El objetivo de este estudio fue describir las características demográficas y clínicas de los pacientes con enfermedad renal crónica (ERC), hipertensión arterial o diabetes mellitus y encontrar la asociación entre la presencia de estas patologías y el desarrollo de ERC. Métodos Estudio analítico y de corte transversal. La información procede de la base de datos única de ERC y de pacientes con hipertensión arterial y diabetes, que las entidades obligadas a compensar suministraron a la Cuenta de Alto Costo, reportada con corte al 30 de junio de 2013. Se realizó un análisis descriptivo y se determinó la prevalencia de ERC y enfermedad renal crónica en estadio 5 (ERC5). Se determinó la asociación entre ERC y edad, sexo y la diabetes mediante odds ratio (OR) crudos. Resultados Se analizaron 2 599 419 registros, de los cuales 40% correspondían a personas con ERC. El 74,9% de la población tenía hipertensión y 6,4% tenía diabetes. La prevalencia de ERC fue de 2,81%, y 94,3% de los pacientes se encontraba en estadios 1 a 3. El riesgo de presentar ERC en los pacientes con diabetes es 1,03 (intervalo de confianza de 95% [IC95%] 1,016 – 1,043). En los mayores de 60 años, el riesgo de ERC es 2,15 (IC95% 2,140 – 2,167). Conclusiones El 33,4% de pacientes con hipertensión o diabetes no han sido estudiados para determinar la presencia o ausencia de ERC. Es prioritario aplicar estrategias de prevención secundaria y primaria, para evitar la progresión de ERC y reducir la prevalencia de factores de riesgo como hipertensión y diabetes.

ABSTRACT Objective To describe the demographic and clinical manifestations of patients with chronic kidney disease (CKD), arterial hypertension, and/or diabetes mellitus, and to determine the association between the presence of these pathologies and the development of CKD. Methods Analytic and cross-sectional study. The information, with a cutoff date of 30 June 2013, comes from the integrated database of CKD and patients with hypertension and diabetes, which the Colombian payer entities provided to the national fund for high-cost diseases (Cuenta de Alto Costo). A descriptive analysis was conducted and the prevalence of CKD and stage 5 CKD was determined. Crude odds ratios (OR) were used to determine the association between CKD and age, sex, and diabetes. Results 2,599,419 records were analyzed, of which 40% corresponded to people with CKD. Overall, 74.9% of the population had hypertension and 6.4% had diabetes. The prevalence of CKD was 2.81%, with 94.3% of patients in stages 1 to 3. In patients with diabetes, the risk of presenting CKD is 1.03 (confidence interval of 95% [CI95%] 1.016-1.043). Among persons over 60 years of age, the risk of CKD is 2.15 (CI95% 2.140-2.167). Conclusions 33.4% of patients with hypertension or diabetes have not been studied to determine the presence or absence of CKD. It is a priority to implement strategies for secondary and primary prevention in order to prevent the progression of CKD and reduce the prevalence of risk factors such as hypertension and diabetes.

Prevalencia de los mecanismos de adaptación del paciente con enfermedad renal bajo tratamiento de hemodiálisis / Prevalência de mecanismos de adaptação do paciente com doença renal em hemodiálise / Prevalence of coping mechanisms of patients with renal disease on hemodialysis

Introducción: La enfermedad renal crónica es resultante de diversas enfermedades crónico degenerativas. El paciente con dicha enfermedad y sometido a hemodiálisis sufre muchos cambios en su estilo de vida. Es por ello que es importante evaluar la prevalencia de los mecanismos de adaptación en el paciente en los aspectos psicológico, afectivo y social. Objetivo: Identificar la prevalencia de los mecanismos adaptativos en el área de lo psicológico, afectivo y social que utiliza el paciente con insuficiencia renal crónica bajo tratamiento de hemodiálisis. Materiales y Métodos: Es un estudio descriptivo de tipo cuantitativo, se utilizó el cuestionario “Mecanismos de adaptación de los pacientes con enfermedad renal crónica en terapia de hemodiálisis”. Se realizó en el año 2010; y presentó un coeficiente del Alfa de Cronbach de 7.0, los datos se analizaron mediante estadística descriptiva. Resultados y Discusión: El estudio arrojó una prevalencia en los mecanismos afectivos, con un 71.4% en la adaptación comprometida; los mecanismos sociales sobresalen con un 61.9% en la adaptación compensatoria; no evidenciando porcentajes favorables en los mecanismos psicológicos. Conclusiones: La mayoría de las personas con enfermedad renal bajo tratamiento de hemodiálisis, utilizan diferentes mecanismos de adaptación a su proceso lo cual depende completamente del ambiente en el que se desarrollan y el acompañamiento familiar que reciben.

Introdução: A doença renal crônica é o resultado de muitas doenças crônicas degenerativas. O paciente com a doença e submetidos a hemodiálise sofre muitas mudanças em seu estilo de vida. É por isso que é importante avaliar a prevalência de mecanismos adaptativos em pacientes nos aspectos psicológicos, emocionais e sociais. Objetivo: Identificar a prevalência de mecanismos adaptativos na área psicológica, emocional e social que utiliza o paciente com insuficiência renal crônica em hemodiálise. Materiais e Métodos: Estudo quantitativo descritivo, o questionário "Mecanismos de adaptação de pacientes com doença renal crônica em hemodiálise" foi usado. A pesquisa foi realizada em 2010; e apresentou coeficiente alfa de Cronbach de 7.0, os dados foram analisados pela estatística descritiva. Resultados e Discussão: O estudo encontrou uma prevalência de mecanismos afetivos de 71,4% empenhados em adaptação; mecanismos sociais de 61,9% na adaptação compensatória; não mostrando percentagens favoráveis nos mecanismos psicológicos. Conclusões: A maioria das pessoas com doença renal em hemodiálise, usam mecanismos diferentes para se adaptar ao processo que depende inteiramente do ambiente em que se desenvolvem eo apoio à família que recebem.

Introduction: Chronic kidney disease is the result of many chronic degenerative diseases. The patient with the disease and undergoing hemodialysis undergoes many changes in your lifestyle. That is why it is important to assess the prevalence of adaptive mechanisms in patients in the psychological, emotional and social aspects. Objective: To identify the prevalence of adaptive mechanisms in the area of the psychological, emotional and social that uses the patient with chronic renal failure on hemodialysis. Materials and Methods: A descriptive quantitative study, the questionnaire "Mechanisms of adaptation of patients with chronic kidney disease on hemodialysis therapy" was used. It was made in 2010; and presented a Cronbach's alpha coefficient of 7.0, the data were analyzed using descriptive statistics. Results and Discussion: The study found a prevalence of affective mechanisms, 71.4% engaged in adaptation; social mechanisms stand with 61.9% in compensatory adaptation; showing no favorable percentages in the psychological mechanisms. Conclusions: Most people with kidney disease on hemodialysis, use different mechanisms to adapt to the process which depends entirely on the environment in which they develop and the family support they receive.