Nefropatía por inmunoglobulina M: características histopatológicas y clínicas. Serie de casos / Immunoglobulin M nephropathy: histopathological and clinical characteristics. Case series

La nefropatía por inmunoglobulina M (NIgM) es una glomerulopatía idiopática caracterizada por depósitos mesangiales globales y difusos de IgM. Se realizó un estudio retrospectivo de las características clínicas e histopatológicas de los pacientes con NIgM atendidos en nuestro servicio. De 241 biopsias renales, 21 correspondieron a NIgM (8,7 %). Se incluyeron 18 pacientes (14 de sexo femenino, mediana de edad: 3,08 años). Se excluyó a 1 paciente por enfermedad sistémica asociada y a 2 por seguimiento menor a 1 año. Catorce pacientes se manifestaron con síndrome nefrótico (SN) y 4 con proteinuria aislada o asociada a hematuria. En la microscopia óptica, 13 presentaron hiperplasia mesangial, y 5 esclerosis focal y segmentaria. De los pacientes con SN, 7 fueron corticorresistentes, 4 corticodependientes y 3 presentaban recaídas frecuentes. Todos los pacientes con SN y 1 con proteinuria-hematuria recibieron inmunosupresores; los 18 pacientes recibieron, además, antiproteinúricos. Luego de 5,2 años (2-17,5) de seguimiento, 6 pacientes evolucionaron a enfermedad renal crónica

Immunoglobulin M nephropathy (IgMN) is an idiopathic glomerulopathy characterized by diffuse global mesangial deposits of IgM. We retrospectively studied the clinical and histopathological characteristics of the patients with IgMN seen in our service. Of 241 renal biopsies, 21 corresponded to IgMN (8.7 %). One patient was excluded due to associated systemic disease and 2 due to follow-up less than 1 year, 18 were included (14 girls, median age 3.08 years). Fourteen manifested with nephrotic syndrome (NS) and the remaining with proteinuria (isolated or associated with hematuria). On light microscopy, 13 had hyperplasia with mesangial expansion and 5 had focal and segmental sclerosis. Of the patients with NS, 7 were steroid-resistant, 4 steroid-dependent, and 3 frequent relapsers. All patients with NS and 1 with proteinuria-hematuria received immunosuppressants; the 18 patients also received antiproteinuric drugs. After 5.2 years (2-17.5) of follow-up, 6 patients developed chronic kidney disease.

Retos terapéuticos en el síndrome nefrótico idiopático / Therapeutic challenges in the idiopathic nephrotic syndrome

El diagnóstico, evaluación y tratamiento del síndrome nefrótico en el niño data de los tiempos de Hipócrates. Sin embargo, en la actualidad algunos pacientes con la enfermedad siguen siendo un reto terapéutico para el médico. Nos proponemos examinar en la literatura reciente, distintas propuestas o protocolos de tratamiento y las nuevas drogas que pueden utilizarse en la atención al paciente con esta enfermedad. Los protocolos de tratamiento varían con relativa frecuencia y las drogas, tanto en los síndromes nefróticos recaedores frecuentes, corticodependientes o corticorresistentes, no garantizan en muchas ocasiones la curación del paciente. Cuando fracasan los esteroides se pueden utilizar agentes alquilantes, inhibidores de la calcineurina, antiproliferativos, anticuerpos monoclonales y otros fármacos, pero existen pacientes que no tienen remisión de la proteinuria con ninguno de estos tratamientos. Por sus características evolutivas, algunos pacientes con síndrome nefrótico idiopático siguen siendo un reto para el médico que trata de evitar su evolución hacia la pérdida de la función renal. A pesar de todos los avances en la atención del niño con síndrome nefrótico, desde el descubrimiento de los esteroides, antibióticos, diuréticos e inmunosupresores, en la actualidad no sabemos exactamente cuál es el mejor tratamiento en las formas resistentes del síndrome nefrótico idiopático en niños(AU)

Diagnosis, evaluation and treatment of nephrotic syndrome in children dates from Hypocrate times. However, nowadays some patients with this disease are still a therapeutic challenge for physicians. The aim of this work is to search in recent literature different proposals or treatment protocols, and new drugs that can be used in the care of patients with this disease. Treatment protocols vary with relative frequency and drugs, as well as in frequent relapsing nephrotic, corticodependent or corticoresistant syndromes, do not guarantee in many ocassions the cure of the patient. When steroids fail, alkylanting agents, calcineurin depressants, antispreading, monoclonal antibodies and other drugs can be ussed; but there are patients who do not have remission of proteinuria with any of these treatments. Due to their evolutive characteristics, some patients with idiopathic nephrotic syndrome are still a challenge for the physicians who try to avoid its evolution toward the loss of renal function. Although all the advances in the care of children with nephrotic syndrome due to the discover of steroids, antibiotics, diuretics and immunosupressive drugs, nowadays we do not exactly know which is the best treatment for the resistant types of idiopathic nephrotic syndrome in children(AU)

Trastornos glomerulares en la práctica médica / Glomerulopathies in the medical practice

RESUMEN Las glomerulopatías agrupan varias nefropatías con lesiones fundamentalmente del corpúsculo renal y que se expresan principalmente por proteinuria, hematuria, edemas e hipertensión arterial. La presentación clínica varía en dependencia del tipo de enfermedad de que se trate. Constituye la causa más frecuente de enfermedad renal crónica en adultos jóvenes, por lo que su estudio resulta imprescindible sobre todo para el nivel primario de salud. El propósito fue actualizar consideraciones pertinentes sobre la conducta diagnóstica y terapéutica integral ante una glomerulopatía y valorar emisión de recomendaciones al respecto. Se realizó una búsqueda, análisis y síntesis de información a través de Bases de datos ScieLO Cuba, ScieLO regional, Pubmed, Cumed, Clinical Key en el período 2012-2017 con las palabras clave: síndrome nefrótico, glomerulonefritis, diagnóstico, terapéutica, atención integral. El abordaje en las glomerulopatías es integral, multidisciplinario e individualizado. En Cuba constituyen la cuarta causa de enfermedad renal crónica y predomina el síndrome nefrítico agudo postinfeccioso. El método clínico juega en ello un papel trascendental a la hora de reconocer y registrar sus aspectos clínicos, su etiología, su fisiopatología, y los exámenes complementarios que confirman su presencia o sus complicaciones, así como un tratamiento oportuno que garanticen el perfeccionamiento asistencial. El arma más poderosa ante el reto de los trastornos glomerulares es la visión integradora y con enfoque individual y social protagonizado por el médico ante este grupo de nefropatías en adultos.

ABSTRACT Glomerulopathies encompass a group of several renal disorders with lesions, mainly in the renal corpuscle, expressed in proteinuria, hematuria, edemas and arterial hypertension. Their clinical manifestations change in dependence of the kind of disease. They are the most frequent cause of chronic renal disease in young adults; therefore their study is very important above all in the health care primary level. The aim was updating pertinent considerations on the diagnostic behavior and comprehensive therapy in the case of glomerulopathy, and evaluating the emission of recommendations regarding to them. A search, analysis and synthesis of information was carried out in the databases ScieLO Cuba, ScieLO regional, Pubmed, Cumed, and Clinical Key in the period 2012-2017, using the key words nephrotic syndrome, glomerulonephritis, diagnosis, therapeutics, comprehensive care. The approach to glomerulopathies is comprehensive, multidisciplinary and individualized. They are the fourth cause of chronic renal disease; the acute post-infectious nephritic syndrome predominates. The clinical method plays a transcendental role at the moment of recognizing and registering their clinical characteristics, etiology and physiopathology, while complementary tests confirm their presence or complications, and therefore an opportune treatment guarantying the healthcare improvement. The most powerful weapon against the challenge of the glomerular disorders is the integrated vision with an individual and social approach led by the physician in the case of these nephropathies in adults.

Tratamiento estomatológico del paciente con síndrome nefrótico congénito e hipoplasia generalizada del esmalte: informe de un caso / Stomatological treatment of the patient with congenital nephrotic syndrome and generalized enamel hypoplasia: report of a case

El síndrome nefrótico es la glomerulopatía que se presenta con mayor frecuencia a nivel mundial. La historia natural de la enfermedad, laevolución, la histología renal y la respuesta al tratamiento, va desde la remisión hasta el trasplante renal. Los pacientes con nefropatía presentan alteraciones estomatológicas propias de la enfermedad y secundariasal tratamiento. Los niños con enfermedad renal crónica presentan doscondiciones orales importantes: alta incidencia de anomalías dentarias(hipoplasia del esmalte, retraso de erupción, calcificaciones pulpares) ybaja actividad de caries. Objetivo: Describir la técnica de restauración dental a base de ionómero mediante un caso clínico de un paciente con nefropatía e hipoplasia del esmalte. Conclusión: El uso de ionómero devidrio como obturación semipermanente en pacientes con hipoplasia del esmalte es una eficaz alternativa de tratamiento cuando no se pueden explotar opciones como sistemas adhesivos, coronas de acero cromo o coronas para dientes permanentes.

Nephrotic syndrome is the glomerulopathy which occur mostfrequently in the world. The natural history of disease, evolution, renalhistology and response to treatment, ranging from referral to renaltransplantation. Patients with kidney disease have own stomatology alterations and secondary alterations related to treatment. Children with chronic renal failure have two oral conditions of interest: high incidence of dental anomalies (enamel hypoplasia, delayed eruption,pulp calcifications) and low caries activity. Objective: To describe the technique ionomer dental restoration by a clinical case of a patientwith nephropathy and enamel hypoplasia. Conclusion: The use of glass ionomer as semi-shutter in patients with enamel hypoplasia isan effective alternative of treatment when cannot be exploited options such as adhesive systems, steel crowns or crowns for permanent teeth.

Cyclophosphamide versus cyclosporine in children with frequent-relapsing and steroid-dependent nephrotic syndrome in Khartoum State, Sudan

Background: in children with frequent-relapsing and steroid-dependent (FR/SD) nephrotic syndrome (NS) remission can be achieved with either cyclophosphamide (CPM) or cyclosporine(CSA). Our objective was to compare the efficacy and safety of these agents.Methodology: Records of all children with FR/SD NS who received CPM or CSA at the Pediatric Renal Unit, Soba Hospital, Khartoum, during the period 2005­2015 were retrospectively reviewed.Main outcomes were: remission rate, relapse rate, and renal outcome.Results: We studied 82 children with FR/SD NS treated with CPM (59.8%) or CSA (40.2%). Males were 69.5% and females 30.5%. The mean admission age was 5 ± 3.10 years. At 6 months,77.6% children on CPM and 60.3% on CSA were in complete remission (CR), (P=0.012) whereas 22.4% versus 39.4% relapsed respectively (P=0.012). At 12 months, 57.5% on CPM and 72.7%on CSA were in CR, (P=0.013) whereas 42.5% versus 27.3% relapsed respectively, (P=0.013). At 24 months, 16.6% on CPM and 29% on CSA were in CR, (P=0.030) whereas 83.4% versus 71%relapsed respectively, (P=0.030). The mean number of relapses per 24 months were 1.7± 0.86 inCPM group versus 2.2 ±0.85 in CSA group, (P=0.72). Mild complications were recorded in 12.4% of patients on CPM group versus 33.3% on CSA, (P=0.031). At the latest follow- up, there was no significant change from basal levels of TWBC, mean serum creatinine, GFR, or BMI, (P>0.05 for all parameters). Conclusion: In children with FR/SD NS, both CPM and CSA were effective and safe in achieving remission with less risk of serious side- effects. However, long-term remission was less stable with both agents

Síndrome nefrótico idiopático: recomendaciones de la Rama de Nefrología de la Sociedad Chilena de Pediatría. Parte 2 / Idiopathic Nephrotic Syndrome: recommendations of the Nephrology Branch of the Chilean Society of Pediatrics. Part two

El síndrome nefrótico idiopático es la glomerulopatía más frecuente en la infancia, afecta a 1-3/100 mil niños menores de 16 años y se presenta con más frecuencia entre los 2 y 10 años. Su causa es desconocida, y la mayoría de las veces responde a corticoides, con buen pronóstico a largo plazo. El síndrome nefrótico corticorresistente representa un 10-20% de los síndromes nefróticos idiopáticos en pediatría. Tiene mal pronóstico, y su manejo constituye un desafío terapéutico significativo. La mitad de los pacientes evoluciona a insuficiencia renal crónica terminal en un plazo de 5 años, estando expuestos además a las complicaciones secundarias a un síndrome nefrótico persistente y a efectos adversos de la terapia inmunosupresora. El objetivo fundamental del tratamiento es conseguir una remisión completa, pero una remisión parcial se asocia a una mejor sobrevida renal que la falta de respuesta. Este documento surgió de un esfuerzo colaborativo de la Rama de Nefrología de la Sociedad Chilena de Pediatría con el objetivo de ayudar a los pediatras y nefrólogos infantiles en el tratamiento del síndrome nefrótico idiopático en pediatría. En esta segunda parte, se discute el manejo del síndrome nefrótico corticorresistente, así como de las terapias no específicas.

Idiopathic nephrotic syndrome is the most common glomerular disease in childhood, affecting 1 to 3 per 100,000 children under the age of 16. It most commonly occurs in ages between 2 and 10. Its cause is unknown, and its histology corresponds to minimal change disease in 90% of cases, or focal segmental glomerulosclerosis. Steroid-resistant nephrotic syndrome represents 10-20% of idiopathic nephrotic syndrome in pediatrics. It has a poor prognosis, and its management is a significant therapeutic challenge. Half of patients evolve to end-stage renal disease within 5 years, and are additionally exposed to complications secondary to persistent NS and to the adverse effects of immunosuppressive therapy. The primary goal of treatment is to achieve complete remission, but even a partial remission is associated with a better renal survival than the lack of response. This paper is the result of the collaborative effort of the Nephrology Branch of the Chilean Society of Pediatrics with aims at helping pediatricians and pediatric nephrologists to treat pediatric idiopathic nephrotic syndrome. In this second part, handling of steroid-resistant nephrotic syndrome as well as nonspecific therapies are discussed.

Nefropatía membranosa secundaria a exposición laboral con mercurio metálico

Las nefropatías tóxicas secundarias a la exposición ocupacional a metales han sido ampliamente estudiadas. La nefropatía membranosa por mercurio es poco frecuente.La intoxicación ocupacional con mercurio sí es frecuente, siendo las principales formas de presentación las manifestaciones clínicas neurológicas. La afectación renal secundaria a la exposición crónica a mercurio metálico puede desarrollar enfermedad glomerular por depósito de inmunocomplejos. La glomerulopatía membranosa y a cambios mínimos son las más frecuentemente comunicadas.Se presenta el caso de un paciente con exposición ocupacional a mercurio metálico, con síndrome nefrótico y biopsia renal con glomerulopatía membranosa que presentó respuesta favorable luego del tratamiento quelante e inmunosupresor.

Toxic nephrophaties secondary to occupational exposure to metals have been widely studied, including membranous nephropathy by mercury, which is rare. Occupational poisoning by mercury is frequent, neurological symptoms are the main form of clinical presentation. Secondary renal involvement in chronic exposure to metallic mercury can cause glomerular disease by deposit of immune-complexes. Membranous glomerulopathy and minimal change disease are the most frequently reported forms. Here we describe the case of a patient with occupational exposure to metallic mercury, where nephrotic syndrome due to membranous glomerulonephritis responded favorably to both chelation and immunosuppressive therapy.

Síndrome nefrótico: diagnóstico nefropatológico y ensayos terapéuticos / Nephotic syndrome: nephropatologic diagnosis and therapeutic trials

La presente investigación bibliográfica es a propósito de las Glomerulopatías Primarias y para hacer un énfasis especial en su repercusión importante y grave responsabilidad por la progresión a la insuficiencia renal terminal (Estadio V). También tenemos la oportunidad en esta presentación de hacer una revisión exhaustiva de los conocimientos más actuales de los mecanismos de lesión de la MBG y sus implicancias de herencia con las diferentes lesiones renales. La importante relevancia de la mutación molecular gen ética para el mecanismo de la proteinuria es un asunto de actualización en la presente revisión. La clasificación de las glomerulopatías permite reconocer el papel etiológico y patógeno y sus indicaciones terapéuticas y en otra forma también de conocer acerca de los orígenes de su secundarismo. La correlación clínico- patológica y la incidencia y la prevalencia del síndrome nefrótico es un tema importante para descubrir alrededor de los indicadores de la histopatología de la gravedad de la lesión glomerular e intersticial. También, necesitamos conocer en el camino de la clasificación de las GP los subgrupos importantes y los patrones de lesión glomerular de cada enfermedad y a veces relacionados con el pronóstico y su susceptibilidad o no a las indicaciones terapéuticas para su modulación inmune El punto de vista y experiencias de los diferentes investigadores en Europa,América y Asia en los ensayos clínico terapéuticos, es de gran relevancia en la administración terapéutica de los inmunosupresores como Tacrolimus, Sirolimus, Anticuerpos Monoclonales y otras nuevas formas de generación y derivados de Ciclosporina, Azathioprina, alrededor de la Ciclofosfamida, Clorambucil y Metyl prednisolona para el tratamiento de las glomerulopatías...

This bibliographical research is intended to make a special emphasis on its major impact and grave responsibility for the progression to end-stage renal disease (stage V) for the Primary Glomerulopathies. We also have the opportunity in this presentation to make a thorough review of the most current knowledge of the MBG injury mechanisms and implications of inheritance with different renal injuries. The important significance ofthe molecular-genetic mutation for the mechanism ofproteinuria is a matter of updating in this review. The c1assification ofthe glomerulopathies allows you to also recognize pathogenic and etiological role and their therapeutic indications, and otherwise get to know about the secondary origins ofthese diseases. The correlation elinic - pathological and the incidence and prevalence ofnephrotic syndrome are an important issue to discover around the histopathology indicators ofthe severity of the glomerular and interstitial injury.Also, we need to know in the way of the path of the c1assification of the GP subgroups and its important patterns of each glomerular disease injury and sometimes associated with prognosis and their susceptibility to directions or not for therapeutic immune modulation. The point of view and experiences of different researehers in Europe, America and Asia in the trials clinical therapeutic, is of great relevance in the therapeutic administration of immunosuppressive Taerolimus, Sirolimus, Monoclonal Antibodies and other new forms of generation and derivatives of Cyclosporine, Azathioprina, Cyclophosphamide, Chlorambucil and Metyl prednisolone in the immune treatment of the glomerulopathies...

Remisión completa de síndrome nefrótico asociado a carcinoma cervicouterino luego de tratamiento del tumor: Comunicación de 2 casos / Complete remission of nephrotic syndrome associated with carcinoma of the cervix after treatment of the tumor: Report of two cases

Nephrotic syndrome secondary to paraneoplastic glomerulopathies is exceptional. We are aware of only three cases reported of cervical carcinomas associated with nephrotic syndrome. Two women, aged 40 and 79 years, presented with nephrotic syndrome. The first had a membranous nephropathy and the second was not biopsied. The first women had a metrorrhagia after 8 months of unsuccessful therapy with corticosteroids and immunosuppressive drugs. An advanced cervical carcinoma with lymph node metastases was found. In the second patient, a cervical carcinoma and hematometra was discovered two months after diagnosis ofa nephrotic syndrome. The syndrome subsided completely, nine months after radiotherapy and chemotherapy in the first patient and 10 months after hysterectomy in the second patient.

Anesthetic management of a child with nephrotic syndrome undergoing open heart surgery: Report of a rare case.

The congenital nephrotic syndrome (NS) in infancy and childhood is an important entity but combination with acyanotic congenital heart disease is uncommon. Anesthesia in such cases is challenging because of associated problems like hypo-protienemia, anti-thrombin III deficiency, edema, hyperlipidemia, coagulopathy, cardiomyopathy, immunodeficiency, increased lung water etc. We describe anesthetic management of a patient with childhood NS and sinus venosus atrial septal defect (ASD) undergoing open heart surgery. We also suggest guidelines for safe conduct of anesthesia and CPB in such patients.

Glomerulopatia colapsante / Collapsing glomerulopathy

Background: Collapsing glomerulopathy is a cause of nephrotic syndrome with massive proteinuria secondary to podocyte proliferation and glomerular collapse. It is characterized by an almost inevitable progression to end stage renal failure, poor response to treatment and high post-transplant recurrence. Its frequency has increased in recent years due to its common association with Human Immunodeficiency Virus (HIV) infection and the growing recognition of new etiologic agents such as drugs and parvovirus B19. Therefore, it is a disease of growing interest for clinicians. The aim of this review is to update the clinical presentation, diagnosis, pathogenesis and therapeutic alternatives of this disease.

Síndrome nefrótica primária em adultos / Primary nephrotic syndrome in adults

O conceito e os critérios clínicos e laboratoriais para o diagnóstico da Síndrome Nefrótica (SN) são revisados neste artigo, assim como a definição de resposta ao seu tratamento. São abordadas as glomerulopatias de causa primariamente renal, particularmente o seu tratamento e prognóstico. Na fase inicial da SN a abordagem está centrada no diagnóstico e tratamento das complicações do estado nefrótico, muitas vezes graves e independentes da etiologia da SN, além da utilização de “medidas gerais” como restrição de sal, uso judicioso de diuréticos e de inibidores da enzima conversora e/ou bloqueadores do receptor da angiotensina. Procede-se o diagnóstico etiológico da doença, se de causa primária ou secundária. Nas glomerulopatias primárias, esse diagnóstico necessariamente dependerá da biópsia renal, a qual definirá qual o protocolo de “tratamento específico” de um ou mais imunossupressores a ser prescrito. Uma proporção significativa de pacientes pode não responder ao tratamento e permanecer com o estado nefrótico, e a decisão por “medidas gerais” e de nefroproteção em geral é a conduta mais adequada, pela baixa probabilidade de resposta e alto potencial de efeitos colaterais dos imunossupressores a longo prazo, como os corticosteróides, agentes citotóxicos e/ou inibidores da calcineurina. Futuramente o uso de drogas mais eficientes e com menos efeitos colaterais poderá ampliar as possibilidades de tratamento específico das glomerulopatias primárias.

Clinical and laboratorial criteria for the definition of Nephrotic Syndrome (NS) are reviewed in this article, as well as characterization of response to its treatment. Primary glomerulopathies are specifically described, particularly their treatment and prognosis. In the initial phase of NS, the approach is mainly focused in the diagnosis and treatment of complications of the nephrotic state, many times severe and independent of the etiology of NS, when general measures such as salt restriction, judicious use of diuretics and angiotensin-enzyme inhibitors and/or angiotensin-receptor blockers are prescribed. Then the etiology of NS is determined, if associated to a primary or a secondary cause. In primary glomerulopathies, this diagnosis relies on renal biopsy that will define a specific immunosuppressive protocol to be prescribed. A significative proportion of these patients could not respond to treatment and remain nephrotic, when to keep general measures and nephroprotection should be the best approach, because immunosuppressors such as corticosteroids, cytotoxic agents and calcineurin inhibitors have a small probability of response and high potential for toxicity in the long term. In the future, more efficient drugs with less side-effects should broaden the options of specific treatments for primary glomerulopathies.

Crescimento e composição corporal em crianças e adolescentes com síndrome nefrótica córtico-dependente / Growth and body composition in children and adolescents with steroid-dependent nephrotic syndrome

Objetivo: Avaliar crescimento e composição corporal em crianças e adolescentes com Síndrome Nefrótica Córtico-Dependente (SNCD). Material e Métodos: Foram incluídos todos os pacientes de 5 a 18 anos, em acompanhamento por pelo menos dois anos, com diagnóstico de SNCD. Foram coletados dados referentes a: tempo de tratamento, valores consecutivos do colesterol, albuminemia, proteinemia total, dose de uso corticoide e peso, estatura e idade da primeira consulta. As avaliações antropométricas dobra cutãnea tricipital e subescapular, índice de massa corpórea, circunferência da cintura e z-escore de estatura/idade foram realizadas durante as consultas de rotina e realizadas somente quando se considerou a criança sem edema clinicamente visível. Estatística não paramétrica com p<0,05. Resultados: Foram estudados 18 pacientes, 11 do sexo masculino (61,1%), idade entre 6 e 16 anos (12,2 +-2,98), tempo médio de tratamento de 6,75 +- 3,75 anos. os valores iniciais do z-escore foram significativamente maiores do que os finais (-0,69 +- 0,80 e de -2,07 +- 1,61; p=0,003). A evolução individual do z-escore mostrou que houve diminuição em 14 (-1,37 +- 1,55) e manutenção dos valores em quatro pacientes. Comparando-se vários parâmetros que poderiam ser responsáveis pela diferença de evolução, somente a proteinúria residual foi significativamente diferente. A medida da circunferência muscular do braço foi significativamente menor no grupo com perda de z-escore. Conclusões: Foi observado na maioria dos pacientes, déficit de estatura e diminuição da massa magra, provavelmente associados à gravidade do quadro nefrótico, que necessitou de doses elevadas e prolongadas de corticóide.

Objective: To evaluate growth and body composition in children and adolescents with steroid-dependent nephrotic syndrome (SNCD). Methods: We included all patients 5-18 years, accompanied by at least two years, diagnosed with SNCD. Data were collected regarding the following: duration of treatment, consecutive values of cholesterol, albumin, total serum protein, dose of corticosteroid use and weight, height and age at first consultation. The anthropometric assessments triceps and subscapular, body mass index, waist circumference, and z-score height / age were performed during routine consultations and carried out only when they saw the child without edema clinically visible. Nonparametric statistical p <0.05. Results: We studied 18 patients, 11 male (61.1%), aged 6 to 16 years (12.2 + -2.98), mean treatment time of 6.75 + - 3.75 years. the initial values of z-scores were significantly higher than the final (-0.69 + - 0.80 and -2.07 + - 1.61, p = 0.003). The individual evolution of z-scores showed that there was a decrease in 14 (-1.37 + - 1.55) and maintenance of values in four patients. Comparing the various parameters that could account for the difference in evolution, only the residual proteinuria was significantly different. The measurement of arm muscle circumference was significantly lower in the group with loss of z-scores. Conclusions: We found in most patients, stunting and reduction in lean body mass, probably associated with the severity of the nephrotic, which required high doses and prolonged corticosteroid.

Pérdidas proteicas peritoneales en niños portadores de síndrome nefrótico en diálisis peritoneal / Peritoneal protein loss in children suffering from nephrotic syndrome undergoing peritoneal dialysis

Primary Nephrotic Syndrome (NS) responds favorably to steroids in 80-90 percent of cases. Most corticoresistant (CR) patients evolve into Chronic Renal Failure (CRF), Of unknown origin, a permeability factor in these patient's serum has been reported, with some known effects in membranes including the peritoneum. Objective: To evaluate peritoneal protein loss in CR children on Chronic Peritoneal Dialysis (CPD). Patients and Methods: Four year retrospective analysis. Group 1 included 9 CR children, Group 2 was a control group of 10 children with CRF of other causes on CPD. Children in both groups were comparable in age, gender, weight, body surface, duration of CPD, concentration of solution, modality and dose of dialysis. Both groups were evaluated at 1, 6 and 12 months after admission. Results: No differences were observes in biochemical parameters: creatinine, urea nitrogen, calcium, phosphorus. PTH (Parathyroid hormone) was significantly higher in the control group (164 +/- 144 vs 564 +/- 454 pg/dl p < 0,05), albumin was lower in NS patients at the beginning (2.27 +/- 0.63 gr/dl vs 3.62 +/- 1.45 gr/dl p < 0,05) and end (2.8 +/- 0.5 gr/ dl vs 3.9 +/- 0.86 gr/dl, p < 0,05) of the evaluation. Peritoneal protein loss was significantly larger in the index group at the beginning (3,41 +/- 2,01 vs 1,76 +/- 1,45 gr/m7dia), and end (4,27 +/- 3,47 vs 1,66 +/-1,31 gr/m7dia, (p < 0.05) of the evaluation. The same happened with urinary loss: while there was no difference in protein intake, peritoneal KtV or total KtV between groups, residual KtV was significantly lower among NS patients at the end of the study, suggesting an earlier drop in residual renal function. No differences were observed in rates of peritonitis between groups in the study period. Conclusion: Peritoneal protein loss in CPD children with NS are significantly larger than other patients in CPD, suggesting a possible systemic permeability factor in these patients.

El Síndrome Nefrótico primario (SN) responde favorablemente a corticoides en un 80-90 por ciento de los casos. Los pacientes cortico resistentes (SNCR) evolucionan, en su gran mayoría, a insuficiencia renal crónica (IRC). De etiología desconocida, se ha reportado la presencia de un factor de permeabilidad (FP) en el suero de estos pacientes, con algunos efectos conocidos a nivel de otras membranas biológicas, incluyendo el peritoneo. Objetivo: Evaluar las pérdidas proteicas vía peritoneo en niños con SNCR en diálisis peritoneal crónica (DP). Pacientes y Método: Análisis retrospectivo de 4 años (2003-2007), Se incluyeron 9 pacientes portadores de SNCR (grupo 1), y un grupo control de 10 niños en DP portadores de IRC por otra etiología (grupo 2). Se evaluó a los 2 grupos al mes 1 y 6 ó 12 de su ingreso. Los grupos fueron comparables respecto a edad, sexo, peso, superficie corporal, tiempo en DP, concentración de dextrosa utilizada, modalidad dialítica y dosis de diálisis. Resultados: No se observó diferencias de los parámetros bioquímicos (creatinina, nitrógeno ureico, calcio, fósforo). La hormona paratiroidea (PTH) fue significativamente mayor en el grupo control (164 +/- 144 vs 564 +/- 454 pg/dl p < 0,05), y la albúmina fue menor en los pacientes con SN al inicio (2,27 +/- 0,63 gr/dl vs 3,62 +/- 1,45 gr/dl p < 0,05) y al final de la evaluación (2,8 +/- 0,5 gr/dl vs 3,9 +/- 0,86 gr/dl, p < 0,05). Las pérdidas proteicas peritoneales fueron significativamente mayores en el grupo 1 vs el grupo 2 al ingreso: 3,41 +/- 2,01 vs 1,76 +/- 1,45 gr/m²/día, y al final de la evaluación: 4,27 +/- 3,47 vs 1,66 +/-1,31 gr/m²/día, (p < 0,05) respectivamente. Lo mismo ocurrió con las pérdidas urinarias. No hubo diferencias en la ingesta proteica, KtV peritoneal ni KtV total entre los grupos, mientras que el KtV residual fue significativamente menor en los pacientes nefróticos al término del estudio, sugiriendo una caída más precoz de la función renal residual. Tampoco...

Síndrome nefrótico familiar: presentación de 12 casos y revisión de la literatura / Familial nephrotic syndrome: case reports and literature review

Estudio descriptivo de una serie de casos de 12 pacientes no consanguíneos: 6 pares de hermanos de entre 2 y 16 años. Cinco de estos pares de hermanos carecían de antecedentes familiares de nefropatías; y un par presentaba antecedente materno de insuficiencia renal crónica terminal secundaria a síndrome nefrótico corticorresistente.

NPHS2 mutations in children with steroid-resistant nephrotic syndrome

Congenital nephrotic syndrome may be caused by mutations in NPHS1 and NPHS2, which encode nephrin and podocin, respectively. Since the identification of the NPHS2 gene, various investigators have demonstrated that its mutation is an important cause of steroid-resistant nephrotic syndrome. We aimed to evaluate frequency and spectrum of podocin mutations in the Iranian children with steroid-resistant nephritic syndrome. We examined 20 children with steroid-resistant nephritic syndrome referred to Ali Asghar Children's Hospital, in Tehran, Iran. Mutations in the 5th and 7th exons of NPHS2 were assessed. The mutational analysis of NPHS2 was performed by DNA sequencing. The mean age at the onset of proteinuria was 6.4 +/- 3.6 years. None of the children had mutations in the exons 5 or 7. Our study suggests that NPHS2 mutations in exons 5 and 7 are not seen in our children. Therefore, we cannot recommend NPHS2 [exons 5 and 7] mutation for screening in Iranian children with steroid-resistant nephritic syndrome. Other exons of podocin or other podocyte proteins in Iranian children may play a role in pathogenesis of steroid-resistant nephritic syndrome

Ciclofosfamida no tratamento da síndrome nefrótica idiopática córtico-sensível na infância: tratamento via oral versus endovenoso / Treatment of childhood steroid-sensitive idiophatic nephrotic syndrome: oral vs. IV administrative route

Relatar nossa experiência com o uso da ciclofosfamida (CF) oral e endovenosa no tratamento da síndrome nefrótica idiopática (SNI) córtico-sensível e recidivante frequente em Pediatria em relação aos benefícios e efeitos adversos observados com cada via de administração...

To report our experience on benefits and untoward effects related to drugs administration route, utilizing either oral or intravenous cyclofosfamide (CF) in the treatment of both corticosteroid sensitive and frequently recurrent pediatric idiopathic nephrotic syndrome (INS)...

Peritonitis bacteriana espontánea como presentación inicial de síndrome nefrótico / Spontaneous bacterial peritonitis as presenting feature of nephrotic syndrome

El síndrome nefrótico es una enfermedad crónica relativamente frecuente en niños, siendo la peritonitis bacteriana una de las complicaciones médicas más severas. A continuación presentamos el caso de un niño de 1 año de edad que es llevado al servicio de emergencias del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera, debido a síntomas y signos abdominales que indicaban la presencia de abdomen agudo; posteriormente se logra demostrar la presencia de peritonitis bacteriana espontánea asociada a síndrome nefrótico