SNefroP - Serviço de Nefrologia Pediátrica
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- Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in childrenPublication . Araújo, L.; Faria, M.; Rocha, L.; Costa, T.; Barbot, J.; Mota, C.Atypical haemolytic uraemic syndrome is causedby alternative complement pathway dysregulation. It has recently been recognised that most cases are due to genetic factors and a growing list of mutations has been described. Atypical haemolytic uraemic syndrome is associated with a dismal prognosis, a relapsing course, high acute mortality and frequent progression to end-stage renal disease. We describe a five-year-old boy admitted with a first recurrence of atypical haemolytic uraemic syndrome. The primary onset of the disease was at 15 months of age, following which there was complete recovery of haematological and renal parameters. His family history was significant in that his mother had died at the age of only 23 years of a stroke with associated thrombotic microangiopathy, suggesting a familial form of the disease. Sequencing of the gene encoding complement factor H revealed a heterozygous SCR20 mutation (3644G>T, Arg1215Leu), confirming the diagnosis. The patient was successfully treated with fresh frozen plasma infusions that induced disease remission. We also review currently evolving concepts about atypical haemolytic uraemic syndrome caused by factor H mutation, its diagnosis, the role of genetic testing and management strategies in children.
- Pediatric transplantation in Europe during the COVID‐19 pandemic: Early impact on activity and healthcarePublication . Doná, Daniele; Torres Canizales, Juan; Benetti, Elisa; Cananzi, Mara; De Corti, Federica; Calore, Elisabetta; Hierro, Loreto; Ramos Boluda, Esther; Melgosa Hijosa, Marta; Garcia Guereta, Luis; Pérez Martínez, Antonio; Barrios, Maribel; Costa Reis, Patricia; Teixeira, Ana; Lopes, Maria Francelina; Kaliciński, Piotr; Branchereau, Sophie; Boyer, Olivia; Debray, Dominque; Sciveres, Marco; Wennberg, Lars; Fischler, Björn; Barany, Peter; Baker, Alastair; Baumann, Ulrich; Schwerk, Nicolaus; Nicastro, Emanuele; Candusso, Manila; Toporski, Jacek; Sokal, Etienne; Stephenne, Xavier; Lindemans, Caroline; Miglinas, Marius; Rascon, Jelena; Jara, PalomaThe current pandemic SARS-CoV-2 has required an unusual allocation of resources that can negatively impact chronically ill patients and high-complexity procedures. Across the European Reference Network on Pediatric Transplantation (ERN TransplantChild), we conducted a survey to investigate the impact of the COVID-19 outbreak on pediatric transplant activity and healthcare practices in both solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). The replies of 30 professionals from 18 centers in Europe were collected. Twelve of 18 centers (67%) showed a reduction in their usual transplant activity. Additionally, outpatient visits have been modified and restricted to selected ones, and the use of telemedicine tools has increased. Additionally, a total of 14 COVID-19 pediatric transplanted patients were identified at the time of the survey, including eight transplant recipients and six candidates for transplantation. Only two moderate-severe cases were reported, both in HSCT setting. These survey results demonstrate the limitations in healthcare resources for pediatric transplantation patients during early stages of this pandemic. COVID-19 disease is a major worldwide challenge for the field of pediatric transplantation, where there will be a need for systematic data collection, encouraging regular discussions to address the long-term consequences for pediatric transplantation candidates, recipients, and their families.