Porfiria aguda intermitente com complicações decorrentes do diagnóstico tardio em paciente pediátrico / Acute intermittent porphyria with complications arising from late diagnosis in a pediatric patient

A porfiria é uma doença rara, decorrente da deficiência enzimática associada à biossíntese do grupamento heme. O objetivo deste relato é descrever um caso de crise porfirêmica aguda intermitente em um paciente de 15 anos, que evoluiu rapidamente com tetraplegia e insuficiência renal crônica terminal, além de distúrbios neuropsiquiátricos. Representa uma entidade de difícil diagnóstico devido à inespecificidade dos achados clínicos. À admissão a creatinina era de 6,44 mg/dL e a uréia de 103 mg/dL. Déficit neurológico importante e insuficiência renal crônica são complicações raras, decorrentes do diagnóstico e tratamento tardio. É fundamental que o tratamento seja iniciado imediatamente após o diagnóstico, devido não somente à morbidade a curto-médio prazo, mas também aos possíveis efeitos deletérios permanentes. (AU)

Porphyria is a rare disease, consequence of enzymatic deficiencies associated with heme group biosynthesis. The aim of this report is to describe a case of acute intermittent porphyria crisis in a 15-year-old patient who progressed rapidly with tetraplegia and chronic terminal renal failure, as well as severe neuropsychiatric disorders. It represents an entity of difficult diagnosis due to the lack of specificity of the clinical findings. At admission, creatinine was 6.44 mg / dL and urea was 103 mg / dL. Significant neurological deficit and chronic renal failure are rare complications, arising from late diagnosis and treatment. A greater degree of clinical suspicion is fundamental that treatment be started immediately after diagnosis, due not only to short-term morbidity but also to possible deleterious permanent effects (AU)

Schistosoma mansoni associated glomerulopathy with IgA mesangial deposits: case report.

INTRODUCTION: Renal involvement is a severe form of schistosomiasis and occurs in 10% to 15% of patients with the hepatosplenic form of the disease. Nephrotic syndrome is the most common clinical presentation. It is a complication caused by immune complexes (IC), it is rare to appear in the Brazilian context with a immunoglobulin A (IgA) deposits. When installed the renal injury by Schistosoma mansoni, classically presents as membranoproliferative glomerulonephritis (mesangiocapillary) with lobular accentuation. OBJECTIVE: To report a case of schistosomiasis nephropathy that appeared 7 years after treatment of hepatosplenic schistosomiasis with histologic pattern of mesangial proliferative glomerulonephritis with IgA deposits in mesangium. Clinically developed with progressive decrease of proteinuria with angiotensin receptor blocker (ARB). METHOD: It was reported a case of a 36 years old patient, brown, with classical sintoms of nephrotic syndrome (proteinuria > 3.5 g/24h, hypoalbuminemia and hypercholesterolemia), however with hepatosplenic schistosomiasis history 7 years ago and portal hypertension. Patient underwent renal biopsy which showed IgA deposits in mesangial, being more intense than immunoglobulin G (IgG), accompanied by C1q and C3, with 4/13 glomeruli sclerotic, standard light mesangial glomerulonephritis renal injury with IgA deposits. Patient began taking ARB with progressive improvement in proteinuria. CONCLUSION: Patients with glomerulonephritis by schistosoma don't show improvement of disease progression with antiparasitic treatment. However the anti-proteinuric treatment can slow the progression of end stage kidney disease.

Schistosoma mansoni associated glomerulopathy with IgA mesangial deposits: case report / Glomerulopatia esquistossomótica com depósitos mesangiais de IgA: relato de caso

Abstract Introduction: Renal involvement is a severe form of schistosomiasis and occurs in 10% to 15% of patients with the hepatosplenic form of the disease. Nephrotic syndrome is the most common clinical presentation. It is a complication caused by immune complexes (IC), it is rare to appear in the Brazilian context with a immunoglobulin A (IgA) deposits. When installed the renal injury by Schistosoma mansoni, classically presents as membranoproliferative glomerulonephritis (mesangiocapillary) with lobular accentuation. Objective: To report a case of schistosomiasis nephropathy that appeared 7 years after treatment of hepatosplenic schistosomiasis with histologic pattern of mesangial proliferative glomerulonephritis with IgA deposits in mesangium. Clinically developed with progressive decrease of proteinuria with angiotensin receptor blocker (ARB). Method: It was reported a case of a 36 years old patient, brown, with classical sintoms of nephrotic syndrome (proteinuria > 3.5 g/24h, hypoalbuminemia and hypercholesterolemia), however with hepatosplenic schistosomiasis history 7 years ago and portal hypertension. Patient underwent renal biopsy which showed IgA deposits in mesangial, being more intense than immunoglobulin G (IgG), accompanied by C1q and C3, with 4/13 glomeruli sclerotic, standard light mesangial glomerulonephritis renal injury with IgA deposits. Patient began taking ARB with progressive improvement in proteinuria. Conclusion: Patients with glomerulonephritis by schistosoma don't show improvement of disease progression with antiparasitic treatment. However the anti-proteinuric treatment can slow the progression of end stage kidney disease.

Resumo Introdução: O acometimento renal é uma forma grave da esquistossomose e ocorre em 10% a 15% dos pacientes com a forma hepatoesplênica da doença. A síndrome nefrótica é a apresentação clínica mais comum. Trata-se de uma complicação causada por imunocomplexos (IC), sendo rara no contexto brasileiro apresentar-se com depósitos de imunoglobulina A (IgA). Quando instalada a lesão renal pelo Schistosoma mansoni, apresenta-se classicamente como glomerulonefrite membranoproliferativa (mesangiocapilar), com acentuação lobular. Objetivo: Relatar caso de glomerulopatia esquistossomótica que se apresentou 7 anos após tratamento de esquistossomose hepatoesplênica com padrão histológico de glomerulonefrite proliferativa mesangial com depósitos de IgA em mesângio. Clinicamente, evoluiu com diminuição progressiva de proteinúria com bloqueador do receptor de angiotensina (BRA). Método: Foi relatado caso de paciente com 36 anos, parda, com quadro clássico de síndrome nefrótica (proteinúria > 3,5 g/24h, hipoalbuminemia e hipercolesterolemia), no entanto, com histórico de esquistossomose hepatoesplênica há 7 anos e com hipertensão portal. Paciente foi submetida à biópsia renal, que apresentou depósitos de IgA em mesângio, sendo mais intensos que imunoglobulina G (IgG), acompanhados de C1q e C3, com 4/13 glomérulos esclerosados, padrão de lesão renal de glomerulopatia mesangial leve com depósitos de IgA. Paciente iniciou uso de BRA, com melhora progressiva da proteinúria. Conclusão: Pacientes com glomerulopatia por schistosoma não apresentam melhora da progressão da doença com tratamento antiparasitário. Entretanto, o tratamento antiproteinúrico pode retardar a progressão da doença renal crônica terminal.

Case report - IgA nephropathy ANCA positive with favorable outcome.

INTRODUCTION: The antineutrophil cytoplasmatic antibody (ANCA) is usually associated with pauci-immune crescentic glomerulonephritis (CrGN). However, the literature show an incidence unexpected high of ANCA in immunocomplex CrNP. The crescent IgA nephropaty is one of CrGN that associated with ANCAObjective:To relate an IgA nephropaty ANCA positive and sign of worse prognosis that improved with immunossupression. METHOD: 38-year-old pacient with arterial hypertension, renal impairment (CKD-EPI 37 ml/min/1,73 m2), non-nephrotic proteinuria and hematuria. He related occasionally epistaxis, rhnosinusitis and one arthritis episode that spontaneously resolved. During de investigation, the ANCA titles were 1/160 and anti-RP3 was positive, however renal biopsy showed IgA nephropaty with 38% of crescents. Regarding IgA nephropaty ANCA positive as the main diagnosis, immunossupression therapy with corticoids (1g IV methilprednisone for 3 days followed by 1 mg/kg/day prednisone) for 6 months and cyclophosphamide (500 mg initially then raise the dose until reach 750 m2. The patient improved renal function and reduced the proteinuria and ANCA titulation. CONCLUSION: The role of the association between IgA nephropathy and ANCA is it aggressive manifestation characterized by the presence of crescents, tubular atrophy and renal dysfunction, which may regress with early onset of immunosuppression treatment.

Relato de Caso - Nefropatia de IgA associada ao ANCA com evolução favorável / Case report - IgA nephropathy ANCA positive with favorable outcome

ResumoIntrodução:Os anticorpos anticitoplasma de neutrófilos (ANCA) comumente estão relacionados a glomerulonefrites rapidamente progressivas (GnRP) com padrão pauci-imune. Apesar disso, a literatura mostra uma incidência além da esperada de ANCA nas GnRP por imunocomplexos. A nefropatia por imunoglobulina A (NIgA) crescêntica é uma das GnRP que pode se associar ao ANCA.Objetivo:Relatar caso de NigA com sinais clínicos de mau prognóstico associado ao ANCA com evolução favorável após imunossupressão.Método:Foi relatado caso de paciente com 38 anos com quadro de hipertensão arterial (HAS), insuficiência renal (CKD-EPI- 37 ml/min/1,73 m2), proteinúria subnefrótica e hematúria. Nos antecedentes pessoais, relatava epistaxes ocasionais, rinossinusite e episódio de artrite com remissão espontânea. Durante a investigação diagnóstica, foram detectados ANCA positivo 1/160 e anti-PR3, porém, com biópsia renal compatível com NIgA com 38% de crescentes na amostra. Foi realizado diagnóstico de NIgA associada ao ANCA, sendo indicado tratamento imunossupressor por seis meses com corticoterapia (pulsoterapia com metilprednisolona 1 g por 3 dias, seguido de prednisona 1 mg/kg/dia) e ciclofosfamida (500 mg com aumento crescente da dose até 750 mg/m2). Paciente evolui com recuperação da função renal, além da redução da proteinúria e da titulação de ANCA.Conclusão:A importância da identificação dessa sobreposição está no comportamento agressivo dessa doença caracterizada pela presença de crescentes, atrofia tubular e disfunção renal que podem regredir com início precoce da imunossupressão.

AbstractIntroduction:The antineutrophil cytoplasmatic antibody (ANCA) is usually associated with pauci-immune crescentic glomerulonephritis (CrGN). However, the literature show an incidence unexpected high of ANCA in immunocomplex CrNP. The crescent IgA nephropaty is one of CrGN that associated with ANCAObjective:To relate an IgA nephropaty ANCA positive and sign of worse prognosis that improved with immunossupression.Method:38-year-old pacient with arterial hypertension, renal impairment (CKD-EPI 37 ml/min/1,73 m2), non-nephrotic proteinuria and hematuria. He related occasionally epistaxis, rhnosinusitis and one arthritis episode that spontaneously resolved. During de investigation, the ANCA titles were 1/160 and anti-RP3 was positive, however renal biopsy showed IgA nephropaty with 38% of crescents. Regarding IgA nephropaty ANCA positive as the main diagnosis, immunossupression therapy with corticoids (1g IV methilprednisone for 3 days followed by 1 mg/kg/day prednisone) for 6 months and cyclophosphamide (500 mg initially then raise the dose until reach 750 m2. The patient improved renal function and reduced the proteinuria and ANCA titulation.Conclusion:The role of the association between IgA nephropathy and ANCA is it aggressive manifestation characterized by the presence of crescents, tubular atrophy and renal dysfunction, which may regress with early onset of immunosuppression treatment.