Hemolytic-uremic syndrome: 24 years' experience of a pediatric nephrology unit / Síndrome hemolítico-urêmica: 24 anos de experiência de uma unidade de nefrologia pediátrica

Abstract Introduction: A better understanding of hemolytic-uremic syndrome (HUS) pathophysiology significantly changed its treatment and prognosis. The aim of this study is to characterize the clinical features, severity, management, and outcomes of HUS patients. Materials and Methods: Retrospective study of HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. Demographic and clinical data regarding etiology, severity, treatment strategies, and patient outcome were collected. Results: Twenty-nine patients with HUS were admitted to our unit, but four were excluded. Median age at diagnosis was two years (2 months - 17 years). Clinical manifestations included diarrhea, vomiting, oliguria, hypertension, and fever. During the acute phase, 14 patients (56%) required renal replacement therapy. Infectious etiology was identified in seven patients (five Escherichia coli and two Streptococcus pneumoniae). Since 2015, 2/7 patients were diagnosed with complement pathway dysregulation HUS and there were no cases of infectious etiology detected. Six of these patients received eculizumab. The global median follow-up was 6.5 years [3 months-19.8 years]. One patient died, seven had chronic kidney disease, four of whom underwent kidney transplantation, one relapsed, and seven had no sequelae. Conclusion: These results reflect the lack of infectious outbreaks in Portugal and the improvement on etiological identification since genetic testing was introduced. The majority of patients developed sequels and mortality was similar to that of other countries. HUS patients should be managed in centers with intensive care and pediatric nephrology with capacity for diagnosis, etiological investigation, and adequate treatment. Long-term follow-up is essential.

Resumo Introdução: Um melhor entendimento da fisiopatologia da síndrome hemolítico-urêmica (SHU) mudou significativamente seu tratamento e prognóstico. Este estudo teve como objetivo caracterizar condições clínicas, gravidade, manejo e desfechos de pacientes com SHU. Materiais e Métodos: Estudo retrospectivo de pacientes com SHU admitidos numa Unidade de Nefrologia Pediátrica entre 1996-2020. Foram coletados dados demográficos e clínicos sobre etiologia, gravidade, estratégias de tratamento, desfechos de pacientes. Resultados: 29 pacientes com SHU foram admitidos em nossa unidade, mas quatro foram excluídos. A idade mediana ao diagnóstico foi dois anos (2 meses-17 anos). Manifestações clínicas incluíram diarreia, vômitos, oligúria, hipertensão e febre. Durante a fase aguda, 14 pacientes (56%) necessitaram de terapia renal substitutiva. Identificou-se a etiologia infecciosa em sete pacientes (cinco Escherichia coli; dois Streptococcus pneumoniae). Desde 2015, 2/7 pacientes foram diagnosticados com SHU por desregulação da via do complemento e não foram detectados casos de etiologia infecciosa. Seis desses pacientes receberam eculizumab. A mediana global de acompanhamento foi 6,5 anos [3 meses-19,8 anos]. Um paciente faleceu, sete apresentaram doença renal crônica, sendo quatro submetidos a transplante renal, uma recidiva e sete sem sequelas. Conclusão: Estes resultados refletem a ausência de surtos infecciosos em Portugal e a melhoria na identificação etiológica desde que os testes genéticos foram introduzidos. A maioria dos pacientes desenvolveu sequelas e a mortalidade foi semelhante à de outros países. Pacientes com SHU devem ser manejados em centros com cuidados intensivos e nefrologia pediátrica com capacidade para diagnóstico, investigação etiológica e tratamento adequado. O acompanhamento alongo prazo é essencial.

Hemolytic-uremic syndrome: 24 years' experience of a pediatric nephrology unit.

INTRODUCTION: A better understanding of hemolytic-uremic syndrome (HUS) pathophysiology significantly changed its treatment and prognosis. The aim of this study is to characterize the clinical features, severity, management, and outcomes of HUS patients. MATERIALS AND METHODS: Retrospective study of HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. Demographic and clinical data regarding etiology, severity, treatment strategies, and patient outcome were collected. RESULTS: Twenty-nine patients with HUS were admitted to our unit, but four were excluded. Median age at diagnosis was two years (2 months - 17 years). Clinical manifestations included diarrhea, vomiting, oliguria, hypertension, and fever. During the acute phase, 14 patients (56%) required renal replacement therapy. Infectious etiology was identified in seven patients (five Escherichia coli and two Streptococcus pneumoniae). Since 2015, 2/7 patients were diagnosed with complement pathway dysregulation HUS and there were no cases of infectious etiology detected. Six of these patients received eculizumab. The global median follow-up was 6.5 years [3 months-19.8 years]. One patient died, seven had chronic kidney disease, four of whom underwent kidney transplantation, one relapsed, and seven had no sequelae. CONCLUSION: These results reflect the lack of infectious outbreaks in Portugal and the improvement on etiological identification since genetic testing was introduced. The majority of patients developed sequels and mortality was similar to that of other countries. HUS patients should be managed in centers with intensive care and pediatric nephrology with capacity for diagnosis, etiological investigation, and adequate treatment. Long-term follow-up is essential.

Emergency endoscopy in pediatrics during the SARS-CoV-2 pandemic in a tertiary center - A changing pattern?

A retrospective analysis of admissions to the pediatric emergency department that required emergency endoscopy was performed, to evaluate if changes in the lifestyle and hospital practices imposed by the pandemic had an impact on the frequency and profile of the emergency endoscopy. The first 6 months of the pandemic (Group A) were compared with the homologous period of the previous year (Group B). Eight-nine cases were analyzed. Most emergency endoscopies occurred in children under the age of two (28%) and most of these were in Group A (p = 0.009). More foreign bodies were removed in Group A (p = 0.026). There were no statistically significant differences in the time to reach the emergency department (p = 0.934) or in the time delay since emergency room admission until the endoscopic procedure (p = 0.266). Overall, the pandemic did not seem to affect the quality of healthcare practice regarding emergency endoscopic procedures.

Case Report of a Neonate Born to a Mother with Severe SARS-CoV-2 Infection under ECMO.

Neonatal SARS-CoV-2 infections are rare and although there is some evidence of vertical transmission, most newborns show no clinical signs or present with only mild clinical symptoms. Fetal survival is reported around 70% in mothers submitted to extracorporeal membrane oxygenation. We present a case of a male newborn born at 29 weeks from a mother under extracorporeal membrane oxygenation due to SARS-CoV-2 infection. There was no evidence of vertical transmission, polymerase chain reaction testing of nasopharyngeal/throat swab and polymerase chain reaction testing of blood sample for SARS-CoV-2 were both negative. On day 2, he developed signs of osteomyelitis of the distal femur extremity, which resolved after six weeks of antibiotic therapy, with no other significant events during admission. This case report depicts the favorable outcome of a live infant born to a mother with severe SARS-CoV-2infection under extracorporeal membrane oxygenation.

A infeção neonatal por SARS-CoV-2 é rara e apesar de existir alguma evidência da possibilidade de transmissão vertical, a maioria dos recém-nascidos não manifesta quaisquer sinais clínicos ou apresenta apenas sintomas ligeiros. A sobrevivência fetal é de aproximadamente 70% para grávidas que tenham necessitado de oxigenação por membrana extracorporal. Apresentamos um caso de um recém-nascido do sexo masculino, nascido às 29 semanas de idade gestacional de uma mãe sob oxigenação por membrana extracorporal, devido a infeção por SARS-CoV-2. Não se verificou evidência de transmissão vertical, e a reação em cadeia da polimerase de amostras nasofaríngeas e sanguíneas foi negativa. No segundo dia de vida desenvolveu sinais compatíveis com osteomielite da extremidade distal do fémur, resolvidos após seis semanas de antibioticoterapia, sem outras intercorrências relevantes durante a admissão. Este caso revela uma evolução clínica favorável de um recém-nascido, filho de mãe com infeção grave por SARS-CoV-2 sob oxigenação por membrana extracorporal.

Posterior reversible encephalopathy syndrome: characteristics, diagnostic accuracy, prognostic factors and long-term outcome in a paediatric population.

Posterior reversible leukoencephalopathy syndrome (PRES) is a rare entity among children, characterised by acute neurological symptoms and radiological findings. The role of clinical symptoms and neuroimaging in predicting the prognosis of PRES have not been well-characterised. A retrospective descriptive study of children with PRES, admitted to a Paediatric Intensive Care Unit during a 10-year period, was performed to describe its characteristics, compare the accuracy of computed tomography (CT) scan and MRI on diagnosis and identify prognostic factors on paediatric population. Sixteen cases were identified. Most patients (13; 81%) presented underlying disorders, including malignancies (5; 31%), chronic kidney disease (3; 19%) and post-transplant status (3; 19%). Hypertension (15; 94%) was the most common trigger. All patients had seizures, 9 patients (56%) altered state of consciousness, 8 (50%) headache. CT scan was performed in 15 patients (94%) and MRI in 13 (81%); 1 patient underwent only MRI. MRI allows the identification of new areas of vasogenic oedema and a correct diagnosis of PRES when CT scan was inconclusive. Two patients (13%) remained with neurological sequelae and one died. In two patients (13%) cognitive disorders (specific learning disorder, intellectual disability, motor tic disorder) were diagnosed during follow-up period. Clinical presentation was not statistically associated with outcome. Also, atypical neuroimaging (haemorrhagic and unilateral lesions) were not statistically related with poor neurological or cognitive outcome. However, prospective studies with a larger cohort are needed to establish prognostic factors of PRES in the paediatric population.

Life-stage factors associated with overweight severity in adolescents.

BACKGROUND: Investigating life-stage factors associated with overweight may be useful in the prevention of excessive BMI increase. The main aim of this study was to investigate the influence of the route of delivery, birth weight and overweight onset on overweight severity in a sample of overweight adolescents followed at a Pediatric Obesity Clinic. METHODS: Clinical data from 412 adolescents with overweight (BMI ≥ p85), aged 10-18 were retrospectively collected and analyzed. RESULTS: Adolescents born by cesarean section (CS) showed a lower age of overweight onset, compared to other methods of delivery (d= 0.33, p= .009). Birth weight was positively associated with BMI z-score (r=.164, p= 002) and waist circumference (WC) (r=.191, p=.001). The overweight onset was negatively associated with BMI z-score (r= -.277, p < .001), WC (r= -.270, p < .001) and body fat mass (r= -.199, p=.001). Overweight duration was the best predictor of BMI z-score, explaining in 75% its variation (F=1,317)=26.94, p < .001), which increased to 99% when birth weight was included in the model (F(2,316)=18.47, p < .001). CONCLUSIONS: This study suggests that lifestyle may interrupt the burden of CS on BMI z-score throughout growth. Moreover, increased birth weight may anticipate overweight onset, and consequently overweight duration in the presence of inadequate lifestyle behaviors.