Atypical hemolytic uremic syndrome in Brazil: clinical presentation, genetic findings and outcomes of a case series in adults and children treated with eculizumab.

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and kidney injury caused by a dysregulation of the alternative complement pathway. METHODS: We conducted a multicenter nonregistry study aimed at collecting clinical, laboratory and genetic information of patients with aHUS in Brazil. Demographic data, genetic findings, treatments and outcomes are presented. RESULTS: Thirty-four patients were included, 62% were female and 67% were Caucasian. Half of the patients had the first manifestation of aHUS before the age of 18 years (pediatric group). Among the 17 patients who had the first manifestation after the age of 18 years (adult group), 6 were kidney transplant patients. Overall, 22 patients (65%) received plasma exchange/plasma infusion (PE/PI) and 31 patients (91%) received eculizumab. Eculizumab was started later in the adult group compared with the pediatric group. Two patients stopped dialysis after PE/PI and 19 patients stopped dialysis after eculizumab despite a late start. A pathogenic/likely pathogenic variant was found in 24.3% of patients. A coexisting condition or trigger was present in 59% of patients (infections, pregnancy, hypertension, autoimmune disease and transplant), especially in the adult group. There was a 30% relapse rate after stopping eculizumab, irrespective of genetic status. CONCLUSION: This is the largest case series of aHUS in Brazil involving a wide range of patients for which eculizumab was the main treatment. Although eculizumab was started later than advised in the guidelines, most patients were able to stop dialysis at variable intervals. Discontinuation of eculizumab was associated with a 30% relapse of aHUS.

Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications.

A 17-year-old male presented thrombotic microangiopathy (TMA) at 6 months of age with arterial hypertension, anemia, thrombocytopenia and kidney injury improving with plasma infusions. Fourteen years later, he was diagnosed with severe arterial hypertension, increase in serum creatinine and chronic TMA on kidney biopsy. Eculizumab was started and after 18 months of treatment, he persisted with hypertension, decline in renal function and proteinuria. Genetic analysis demonstrated mutation in diacylglycerol kinase epsilon (DGKe). Complement blockade was stopped. This case of late diagnosis of DGKe nephropathy highlights the importance of genetic testing in patients presenting TMA during the first year of life.

Reversal of pulmonary hypertension in children after adenoidectomy or adenotonsillectomy.

INTRODUCTION: Adenotonsillar hypertrophy is a common condition in pediatric patients with upper respiratory airways complaints, and pulmonary arterial hypertension (PAH) may be one complication of that condition. OBJECTIVES: To study the occurrence of PAH (mean pulmonary artery pressure higher than or equal to 25 mmHg) in a group of children with adenotonsillar hypertrophy and upper respiratory complaints (snoring or oral breathing), and to verify the pulmonary arterial pressure (PAP) changes after adenotonsillectomy. STUDY DESIGN: Case-control prospective study. SETTINGS: Study conducted at São Lucas Hospital, approaching both public and private sector. SUBJECT AND METHODS: Thirty-three pediatric patients with adenotonsillar hypertrophy and evidence of obstructive upper airways complaints were treated with adenotonsillectomy. All 33 patients underwent echocardiogram before and after the surgery with determination of the pulmonary arterial pressure (PAP), through either the tricuspid regurgitation or artery linear flow acceleration time estimation. Similar determinations were performed in 10 normal non operated controls. RESULTS: Pulmonary hypertension was verified 12 (36%) of the 33 patients with adenotonsillar hypertrophy. Adenoidectomy or adenotonsillectomy was associated to a significant 27% decrease in mean PAP (27 ± 2.8 to 20 ± 5.1 mmHg, p<0.001) and to a non significant 26% decrease in systolic PAP (35 ± 6.2 mmHg to 25 ± 0.5 mmHg, p=0.243). The PAP values in children with no pulmonary hypertension were not changed after the surgery. CONCLUSIONS: In children with pulmonary hypertension associated to adenotonsillar hypertrophy, the adenotonsillectomy decreased PAP to normal values in all patients.

Analgesia pós-operatória em cirurgia torácica / Postoperative analgesia in thoracic surgery

Os autores visam descrever e comparar as principais técnicas de analgesia no pós-operatório de cirurgia torácica

Transporte de membrana celular / Transport of cell membranes

As células humanas säo circundadas por uma membrana externa. A funçäo celular é dependente da composiçäo e funçäo desta membrana plasmática, cuja anormalidades podem estae envolvidas em processos patológicos. Esta revisäo aborda aspectos da estrutura e funçäo de transporte através da membrana celular

Malária por falciparum na infância / Malaria by falciparum in childhood

A malária, doença extremamente prevalente em vários países em desenvolvimento, afeta milhöes de crianças em todo o mundo, sendo muitas vezes fatal. Nas áreas endêmicas, a doença apresenta-se tipicamente em crianças com menos de cinco anos, com anorexia, vômitos, febre, cefaléia, alteraçöes do nível de consciência e convulsöes. A severidade, em geral, dos quadros clínicos se deve à demora no diagnóstico e início do tratamento. Quinino é a droga de escolha em todo o mundo e o tratamento deve ser feito por via endovenosa. Entretanto, o uso desta droga näo tem sido extensamente estudado em crianças, e nestas, o tratamento ideal ainda näo é conhecido. A resistência à cloroquina já está amplamente difundida e portanto só deve ser usada se quinino näo for disponível. Nas áreas de alta resistência à cloroquina, suplementos com tetraciclina säo usados. A quimioprofilaxia para malária em crianças, nas zonas estáveis, é controversa, pelo medo de promover resistência à droga