Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry.

Background: Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS). Methods: Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology. Results: The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .08). Conclusions: The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients.

Infecção por parvovírus B19 em receptores de transplante renal: série de caso / Parvovirus B19 infection in kidney transplant recipients: a case series

Os receptores de transplante renal são mais suscetíveis a infecções, entre elas o parvovírus B19, que pode ser transmitido por via respiratória, adquirido por meio do enxerto ou por reativação de infecção latente. A anemia normocítica normocrômica, com diminuição dos reticulócitos e resistência ao tratamento com eritropoietina, é a principal forma de apresentação da infecção por parvovírus B19 em transplante renal. O diagnóstico requer alto índice de suspeição clínica e realização de testes diagnósticos selecionados. Tratamento com imunoglobulina e suspensão dos imunossupressores durante a infecção mostraram-se eficazes. Os autores relatam sua experiência com cinco casos de infecção por parvovírus B19 em receptores de transplante renal de um hospital universitário. Os aspectos clínicos, diagnósticos e terapêuticos são revistos.

Kidney transplant recipients are more susceptible to infections, including by parvovirus B19, spread through the respiratory tract, acquired through the graft or reactivation of latent infection. Normocytic normochromic anemia, with decreased reticulocytes and resistance to erythropoietin treatment, is the most common presentation of Parvovirus B19 infection in renal transplant. Diagnosis requires a higher clinical suspicion and the performance of selected diagnostic tests. Treatment with immunoglobulin and suspension of immunosuppressive therapy during the infection may be effective. The authors report five cases of PB19 infection in kidney transplant patients at a hospital. The clinical, diagnostic, and treatment features are reviewed.

Estenose da artéria do enxerto renal: prevalência e fatores associados em uma unidade detransplante renal

INTRODUÇÃO: A estenose da artéria do enxerto renal (EAER), complicação vascular mais comum pós-transplante (Tx) renal, pode levar à hipertensão resistente, piora da função renal e até perda do enxerto. OJETIVOS: Investigar a prevalência e fatores associados à EAER. MÉTODOS: Estudo caso-controle retrospectivo, em população de receptores de Tx realizados de janeiro de 2008 a março de 2014, em um centro de referência em Tx renal no nordeste do Brasil. Foram avaliados como fatores associados à EAER características demográficas e clínicas do receptor e doador, dados relacionados a cirurgia, dados laboratoriais e número de anti-hipertensivos. A análise estatística foi realizada através do programa SPSS 17.0, valores descritivos abaixo de 5% (p < 0,05) foram considerados estatisticamente significativos. RESULTADOS: Foram avaliados 494 de 529receptores, sendo 24 pacientes com EAER, prevalência de 4,8%. Média do tempo do diagnóstico 89,9dias pós-Tx. Fatores associados a EAER foram número de anti-hipertensivos ≥ 2 e enxerto com duas ou mais artérias (p< 0,05). Houve redução significativa namédia da PAS (147,1 ± 23,7para 127,8 ± 15,2mmHg, p=0,001) e da PAD (86,6 ± 13,0para 77,6 ± 9,4mmHg, p=0,001) após a correção da EAER, bem como na creatinina sérica (de 2,8 ± 2,4 para 1,9 ± 1,8mg/dL, p=0,04)...

INTRODUCTION: The transplant renal artery stenosis (TRAS)is the most common vascular complication post-kidney transplant (Tx) that can lead to resistant hypertension, impaired renal function and even loss of the graft. OBJECTIVES: To investigate the prevalence and factors associated with TRAS. METHODS: A retrospective case-control study was carried out in a population of Tx recipientsfrom January 2008 to March 2014 in a renal Tx reference center in northeastern Brazil. Demographic and clinical characteristics of the recipient and donor,data related to the surgery, laboratory data and number of antihypertensive drugs were assessed as factors associated with TRAS. Statistical analysis was performed using SPSS 17.0. RESULTS: A total of 494 of 529 recipients wereassessed, of which 24 had TRAS.The prevalence of TRASwas 4.8% (24 patients), of which 23 had a deceased donor. Twelve patients (50%) were males, mean age of 46.7 ± 13.5 years (range 17-78 years).Meantime of diagnosis was 89.9 days post-Tx. The risk factors associated with TRASwere number of antihypertensivedrugs≥ 2 (OR: 17.0; CI: 4.1 to 70.4, p = 0.001) and grafting with two or more arteries (OR 8.9, CI: 1.4 -56.6, p = 0.021). There was a significant reduction in mean SBP (147.1 ± 23.7 to 127.8 ± 15.2 mmHg,p = 0.001) and DBP (86.6 ± 13.0 to 77.6 ± 9.4mmHg, p = 0.001) after TRASrepair,as well as in serum creatinine (2.8 ± 2.4 to 1.9 ± 1.8 mg / dL, p = 0.04)...

FATAL DISSEMINATED CRYPTOCOCCOSIS WITH RENAL INVOLVEMENT IN AN HIV-INFECTED PATIENT.

INTRODUCTION: We present a fatal case of disseminated cryptococcosis in a young man whose diagnosis of HIV infection was made at the time of admission to the emergency room. CASE REPORT: The patient was a twenty-three-year-old man, with a history of daily fever during one month associated with diarrhea, weight loss, headache, vomiting and generalized seizures. He also had a history of diabetes mellitus, alcoholism and drug addiction. Upon physical examination the patient was pale, disoriented and had periods of agitation. White blood cells count was 3,440/mm³ (5% lymphocytes), hemoglobin was 10 g/dL, platelets were 83,000/ mm³. Creatinine was 0.7 mg/dL; urea 19 mg/dL; Na, K, and liver enzymes were within normal limits. Lactic dehydrogenase was 494 IU/L. Cerebrospinal fluid (CSF) analysis revealed 10 white blood cells/mm³ (58% neutrophils, 31% lymphocytes, 11% monocytes) and 2 red blood cells/mm³. India ink test revealed six Cryptococcus yeasts/mm³. CSF glucose was 122 mg/dL and protein was 36 mg/ dL. VDRL test was negative and anti-HIV test was positive. Intravenous hydration, insulin, phenytoin, fluconazole, pyrimethamine, sulfadiazine, folinic acid, and amphotericin B were started. The patient did not improve and became obtunded and hypotensive. He was intubated and put on mechanical respiration. He received vasoactive drugs and died less than 24 hours after admission. A postmortem examination was performed and revealed disseminated cryptococcosis, with severe involvement of the kidneys. CONCLUSION: Cryptococcosis, as a rule, is a systemic disease that affects mostly immunocompromised individuals, especially patients with AIDS. When diagnosed late in its course it has a very high mortality.

Fatal disseminaeed cryptococcosis with renal involvement in an HIV-infected patient / Criptococose disseminada fatal com envolvimento renal em paciente infectado pelo HIV

SUMMARYIntroduction: We present a fatal case of disseminated cryptococcosis in a young man whose diagnosis of HIV infection was made at the time of admission to the emergency room.Case report: The patient was a twenty-three-year-old man, with a history of daily fever during one month associated with diarrhea, weight loss, headache, vomiting and generalized seizures. He also had a history of diabetes mellitus, alcoholism and drug addiction. Upon physical examination the patient was pale, disoriented and had periods of agitation. White blood cells count was 3,440/mm3 (5% lymphocytes), hemoglobin was 10g/dL, platelets were 83,000/ mm3. Creatinine was 0.7 mg/dL; urea 19 mg/dL; Na, K, and liver enzymes were within normal limits. Lactic dehydrogenase was 494 IU/L. Cerebrospinal fluid (CSF) analysis revealed 10 white blood cells/mm3 (58% neutrophils, 31% lymphocytes, 11% monocytes) and 2 red blood cells/mm3. India ink test revealed six Cryptococcusyeasts/mm3. CSF glucose was 122 mg/dL and protein was 36 mg/ dL. VDRL test was negative and anti-HIV test was positive. Intravenous hydration, insulin, phenytoin, fluconazole, pyrimethamine, sulfadiazine, folinic acid, and amphotericin B were started. The patient did not improve and became obtunded and hypotensive. He was intubated and put on mechanical respiration. He received vasoactive drugs and died less than 24 hours after admission. A postmortem examination was performed and revealed disseminated cryptococcosis, with severe involvement of the kidneys.Conclusion:Cryptococcosis, as a rule, is a systemic disease that affects mostly immunocompromised individuals, especially patients with AIDS. When diagnosed late in its course it has a very high mortality.

RESUMOIntrodução: Apresentamos um caso fatal de criptococose disseminada em homem jovem cujo diagnóstico de HIV foi feito no momento da admissão na emergência.Relato de caso: O paciente, de 23 anos, sexo masculino, tinha história de febre diária de um mês de duração, associada à diarreia, perda de peso, cefaleia, vômitos e convulsões generalizadas. Tinha ainda história de diabetes mellitus, alcoolismo e drogadição. Ao exame físico havia palidez, desorientação e períodos de agitação. Os exames laboratoriais mostraram 3.440 leucócitos/mm3(5% linfócitos), hemoglobina de 10 g/dL, 83,000 plaquetas/mm3, creatinina de 0,7mg/dL, ureia de 19 mg/dL, Na, K e enzimas hepáticas dentro dos limites da normalidade. A lactato desidrogenase era 494 UI/L. Análise do líquor revelou 10 leucócitos/mm3 (58% neutrófilos, 31% linfócitos, 11% monócitos) e 2 hemácias/mm3, glicose de 122 mg/dL e proteína de 36 mg/dL. A análise com tinta da Índia revelou seis blastoconídeos de Cryptococcus/mm³. O VDRL foi negativo e o anti-HIV positivo. Foi iniciado tratamento com hidratação venosa, insulina, fenitoína, fluconazol, pirimetamina, sulfadiazina, ácido folínico e anfotericina B. O paciente não apresentou melhora e evoluiu com obnubilação e hipotensão, sendo intubado e iniciada ventilação mecânica. Foram administradas drogas vasoativas, e o paciente evoluiu a óbito menos de 24h após a admissão. A autópsia revelou criptococose disseminada, com grave envolvimento renal.Conclusão:A criptococose é via-de-regra, doença sistêmica que afeta principalmente indivíduos imunocomprometidos, especialmente com AIDS, e quando diagnosticada tardiamente apresenta alta mortalidade.