Assuntos
Angiomiolipoma , Neoplasias Renais , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológico , Angiomiolipoma/complicações , Angiomiolipoma/tratamento farmacológico , Inibidores de MTOR , Neoplasias Renais/complicações , Neoplasias Renais/tratamento farmacológico , Serina-Treonina Quinases TORRESUMO
There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.
Assuntos
Doenças Genéticas Inatas/genética , Nefropatias/congênito , Nefropatias/diagnóstico , Rim/fisiopatologia , Adulto , Criança , Pré-Escolar , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Doença de Fabry/terapia , Feminino , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/métodos , Taxa de Filtração Glomerular/fisiologia , Glomerulosclerose Segmentar e Focal/diagnóstico , Glomerulosclerose Segmentar e Focal/genética , Glomerulosclerose Segmentar e Focal/terapia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/terapia , Humanos , Lactente , Comunicação Interdisciplinar , Nefropatias/fisiopatologia , Nefropatias/terapia , Glomérulos Renais/patologia , Túbulos Renais/patologia , Masculino , Doenças Metabólicas/patologia , Nefrologia/normas , Trombocitopenia/congênito , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Trombocitopenia/terapia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapiaRESUMO
The Brazilian collaborative registry for pediatric renal transplantation began in 2004 as a multicenter initiative aimed at analyzing, reporting, and disseminating the results of pediatric renal transplantation in Brazil. Data from all pediatric renal transplants performed from January 2004 to May 2018 at the 13 participating centers were analyzed. A total of 2744 pediatric renal transplants were performed in the thirteen participating centers. The median age at transplantation was 12.2 years, with the majority being male recipients (56%). The main underlying diseases were CAKUT (40.5%) and glomerulopathy (28%). 1981 (72%) of the grafts were from deceased donors (DD). Graft survival at one year (censored by death) was 94% in the live donor group (LD) and 91% in the DD group (log-rank test P < 0.01). The patient's survival at one and 5 years was 97% and 95% for the LD group and 96% and 93% for the DD group (log-rank test P = 0.02). The graft loss rate was 19% (n = 517), more frequently caused by vascular thrombosis (n = 102) and chronic graft nephropathy (n = 90). DD recipients had 1.6 (1.0-2.2) times greater chance of death and 1.5 (1.2-1.8) times greater chance of graft loss compared to LD recipients. The mortality rate was 5.4% (n = 148), mainly due to infection (n = 69) and cardiovascular disease (n = 28). The results of this collaborative pediatric renal transplant record are comparable to other international registries, although we still have a high infection rate as a cause of death.
Assuntos
Sobrevivência de Enxerto , Nefropatias/cirurgia , Transplante de Rim , Sistema de Registros , Adolescente , Brasil , Criança , Ciclosporina/farmacologia , Feminino , Seguimentos , Rejeição de Enxerto , Humanos , Cooperação Internacional , Nefropatias/complicações , Falência Renal Crônica , Doadores Vivos , Masculino , Complicações Pós-Operatórias/mortalidade , Trombose/fisiopatologia , Obtenção de Tecidos e ÓrgãosRESUMO
Hepatite é a quinta forma conhecida de hepatites humanas virais. Apesar de ser muito incomum em nossa prática clínica, a incidência em países ocidentais vem aumentando. O vírus da Hepatite E (HVE) pode estar relacionado à doença aguda, falência hepática, hepatite crônica e cirrose. O HVE é um RNA vírus, com 5 genótipos descritos (1, 2, 3, 4 e 5), sendo que quatro deles podem afetar humanos. Além das manifestações hepáticas, o genótipo 3 pode também levar a manifestações extra-hepáticas, como alterações neurológicas, renais e reumatológicas. O diagnóstico pode ser difícil porque existem poucos testes validados e ainda com baixa sensibilidade e especificidade. A hepatite aguda não precisa ser tratada, já a hepatite E crônica deve ser tratada. Relatamos aqui um caso brasileiro de Hepatite E crônica em um paciente imunossuprimido.
Hepatitis E is the fifth known form of human viral hepatitis. Although not very common in our clinical practice, the incidence in Western countries is increasing. Hepatitis E virus (HEV) may be related to acute illness, liver failure, chronic hepatitis and cirrhosis. HEV is an RNA virus, with 5 described genotypes (1,2,3,4,5), 4 of them can affect humans. Besides liver manifestations, genotype 3 is also related to extra-hepatic manifestations, such as neurological, renal and rheumatological. The diagnosis may be difficult because of the low availability of tests and due to low sensibility and specificity. The acute illness does not have to be treated, but the chronic one does. We presente here a Brazilian case of chronic hepatitis E in an immunosuppressed patient.
