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- A Mother's Deficiency, a Baby's Challenge: Vitamin B12 Deficiency Related Seizures and Pancytopenia in an InfantPublication . Rebelo, Ana; Serôdio, Margarida; Caetano, Francisco Branco; Gomes Pereira, Andreia; Maia, RaquelAnemia is prevalent in pediatric age and it stems from diverse factors. While iron deficiency is a common cause above six months of age, other nutritional deficits contribute to the disease burden. During pregnancy, anemia due to nutritional deficits is associated with adverse outcomes for the newborn. Precise diagnosis of dietary deficits in the pediatric population is vital to avert negative health consequences. We describe the case of a six-month-old exclusively breastfed infant with a mother having unspecified anemia under folic acid supplementation. The infant presented with neurological symptoms, including paroxysmal events and developmental regression. Laboratory analysis revealed pancytopenia and severe vitamin B12 deficiency. The patient’s mother's serum level of vitamin B12 was also low and ant parietal cell antibodies were positive, suggesting maternal autoimmune gastritis. Treatment with hydroxocobalamin led to clinical and analytical improvement. Maternal deficiency is the major cause of cobalamin deficiency in infants. It is paramount to raise awareness to this issue to prevent its avoidable repercussions.
- Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein-Barr Virus Infection.Publication . Sousa Nunes, Beatriz; Gouveia, Catarina; Kjollerstrom, Paula; Farela Neves, JoãoAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
- Age-Dependent Phenotypic and Molecular Evolution of Pediatric MDS Arising from GATA2 DeficiencyPublication . Kotmayer, Lili; Kozyra, Emilia J; Kang, Guolian; Strahm, Brigitte; Yoshimi, Ayami; Sahoo, Sushree S; Pastor, Victor B; Attardi, Enrico; Voss, Rebecca; Vinci, Luca; Kaiser, Max; Dworzak, Michael N; De Moerloose, Barbara; Sukova, Martina; Starý, Jan; Hasle, Henrik; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kállay, Krisztián; Smith, Owen P; Malone, Andrea; Barzilai Birenboim, Shlomit; Masetti, Riccardo; Buechner, Jochen; Ussowicz, Marek; Kjöllerström, Paula; Bodova, Ivana; Kavcic, Marko; Català, Albert; Turkiewicz, Dominik; Schmugge, Markus; de Haas, Valerie; Okhomina, Victoria I; Sotomayor, Cristian; Catalán, Paula; Wehr, Claudia; Salzer, Ulrich; Germing, Ulrich; Gattermann, Norbert; Bödör, Csaba; Gray, Nathan; Lewis, Sara; Shimamura, Akiko; Giorgetti, Alessandra; Erlacher, Miriam; Niemeyer, Charlotte M; Wlodarski, Marcin WGATA2 deficiency is an autosomal dominant transcriptopathy disorder with high risk for myelodysplastic syndrome (MDS). To elucidate genotype-phenotype associations and identify new genetic risk factors for MDS, we analyzed 218 individuals with germline heterozygous GATA2 variants. We observed striking age-dependent incidence patterns in GATA2-related MDS (GATA2-MDS), with MDS being absent in infants, rare before age 6 years, and steeply increasing in older children. Among 108 distinct GATA2 variants (67 novel), null mutations conferred a 1.7-fold increased risk for MDS, had earlier MDS onset compared to other variants (12.2 vs. 14.6 years, p = 0.009) and were associated with lymphedema and deafness. In contrast, intron 4 variants exhibited reduced penetrance and lower risk for MDS development. Analysis of the somatic landscape revealed unique patterns of clonal hematopoiesis. SETBP1 mutations occurred exclusively in patients with monosomy 7 and their frequency decreased with age. Conversely, the frequency of STAG2 mutations and trisomy 8 increased with age and appeared protective against early development of advanced MDS. Overall, the majority (73.9%) of mutation-positive cases harbored monosomy 7, suggesting it serves as a major driver in malignant progression. Our findings provide evidence for age-appropriate surveillance, and a foundation for genotype-driven risk stratification in GATA2 deficiency.
- Rivaroxaban for the Treatment of Venous Thromboembolism in NPHS1 Congenital Nephrotic SyndromePublication . Saraiva BS; Alves EC; Sousa A1; Borges MA; Costa MS-M; Baptista RB; Batalha S; Maia R; Neto G; Kjöllerström P; Francisco TIntroduction: Nephrotic syndrome (NS) is associated with a multifactorial hypercoagulable state. Congenital NS (CNS) exhibits a higher prevalence of thrombotic events compared to other types. Direct oral anticoagulants (DOAC) have been approved for paediatric acute venous thromboembolism. Case Report: We present 2 CNS children treated with rivaroxaban for treatment (Case 1) and prophylaxis (Case 2) of thrombotic events. A 2-month-old male previously diagnosed with CNS with homozygous mutation in the NPHS1 gene, underwent central venous catheter (CVC) replacement during which multiple thrombi were seen. The patient developed clinical signs compatible with pulmonary embolism. Chest radiograph showed a peripheral condensation on the left hemithorax and CT-angiography was inconclusive for peripheral embolism. Despite therapeutic doses of enoxaparin, adjustments were difficult with persistently low anti-Xa levels. The switch to rivaroxaban was performed, and doses were regularly adjusted based on patient’s weight. No adverse or other thrombotic events were reported, despite maintaining CVC. As expected, chronic kidney disease progressed at 19 months and rivaroxaban was suspended. An 8-month-old female with CNS associated with an heterozygous mutations in the NHPS1 gene, underwent multiple CVC replacements due to recurrent obstruction despite heparinisation and alteplase administrations. Although there were no systemic thrombotic episodes, considering the high risk of thrombosis, prophylaxis with rivaroxaban was initiated with eGFR of 54 mL/min/1.73m2 (1-2 SD below expected eGFR). Weight-adjusted dose was prescribed. No severe adverse or thrombotic events reported until 19 months. Conclusion: These cases suggest that the safety and efficacy profile of rivaroxaban may be encouraging for treating and preventing venous thromboembolism in CNS. However, additional studies are warranted to optimize DOAC use in children with complex conditions, such as CNS, allowing for more tailored management of anticoagulation in this high-risk population.
- COVID- 19 in Patients Affected by Red Blood Cell Disorders, Results From the European Registry ERN-EuroBloodNet.Publication . Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodríguez-Sánchez, Maria A; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardón-Cancho, Eduardo J; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthøj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J; Stiakaki, Eftichia; Van de Velde, Ann L; Diamantidis, Michael D; Kerkhoffs, Jean-Louis H; Oliveira, Marisa I; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argüello Marina, María; Lorite Reggiori, Mikael; Rijneveld, Anita W; Rodríguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Béatrice; Roy, Noémi B A; Mañú-Pereira, María Del MarBackground: Despite several publications covering patients from multiple centers, no international registry covered all patients with red blood cell diseases (RBCD) affected by COVID- 19. The ERN-EuroBloodNet's registry provided real-time registration of SARS-CoV- 2 patients with RBCD, promoting timely disease-specific knowledge sharing during the pandemic's early stages. Procedures: The study evaluated patient distribution, the infection across different RBCDs, and severity risk factors across similar healthcare systems, using data collected from the ERN-EuroBloodNet's REDCap platform. Results: From April 2020 to April 2023, 681 infections were recorded among 663 patients, of which 373 had transfusion-dependent thalassemia or non-transfusion-dependent thalassemia (TDT/NTDT), and 269 had sickle cell disease (SCD). SCD patients had a higher incidence of COVID- 19 than those with TDT/NTDT (10.5 vs. 4.8 COVID/100 patients). Notably, 92% of the cases were mild, with neither age nor the specific RBCD affecting severity. The number of comorbidities, notably obesity and hypertension, that patients had prior to infection was associated with more severe COVID- 19. During the infection, the presence of vaso-occlusive crises, acute chest syndrome, kidney failure, and ground-glass opacities on chest tomography scans were associated with a more severe clinical picture. The vaccination rate (32%) mirrored that of the general population and showed a protective effect against severe COVID- 19. The observed mortality rate was 0.7%, aligning with Europe's general population. Conclusion: SARS-CoV- 2 infection in SCD and TDT/NTDT patients is mild and without higher mortality than the general population. The ERN-Eurobloodnet's registry collaborative structure exemplifies the power of international cooperation in tackling rare diseases, especially during health emergencies.
- Comparison of Outcomes of Immunosuppressive Therapy with Rabbit versus Horse Antithymocyte Globulin and Cyclosporine a in Children with Acquired Severe Aplastic Anemia.Publication . Yoshimi, Ayami; Noellke, Peter; Starý, Jan; Kállay, Krisztián; Smith, Owen; Locatelli, Franco; Buechner, Jochen; Bodova, Ivana; Sevilla, Julian; Schmugge, Markus; Bierings, Marc; Masmas, Tania; Dworzak, Michael; Labarque, Veerle; Pawelec, Katarzyna; Jahnukainen, Kirsi; Polychronopoulou, Sophia; Kjollerstrom, Paula; Kavcic, Marko; Erlacher, Miriam; Niemeyer, Charlotte M; Strahm, Brigitte
- Optimizing Hospital Referrals: From Overload to SolutionPublication . Santos Vale, Sara; Pessoa, Tânia; Batalha, Sara; Kjollerström, Paula; Maia, Raquel
- Cross-Sectional Epidemiological Study to Understand the Approach to Treatment in the Routine Care of Patients with Hemophilia B in Spain and PortugalPublication . Álvarez-Román, MT; Carvalho, M; Benítez-Hidalgo, O; Catarino, C; García-Frade, LJ; Rodríguez-López, M; Antunes, M; Fernández-Mosteirín, N; Kjöllerström, P; Morais, S; Galmes, B; López-Fernández, MF; Riera-Sans, L; Rodrigues, JF; Jiménez-Yuste, V; Salvado, RIntroduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderately severe and severe PWHB. Sociodemographic, epidemiological, clinical, treatment, and QoL data were collected retrospectively over a 24-month period. Results: Of the 75 patients included in the study, 78.7% received prophylactic treatment and 21.3% on demand; 65.3% were treated with SHL-FIX and 10.7% with rIX-FP. Bleeding occurred in 81.3%, mainly in the form of spontaneous bleeding. Prophylaxis resulted in a lower annualized bleeding rate, better joint health, and better QoL, compared to on-demand treatments. Patients treated with rIX-FP throughout the study had better disease control and QoL than those treated with SHL-FIX. Conclusion: With the largest sample to date of PWHB from Spain and Portugal, our understanding of the management and impact of hemophilia B is broadened and, in accordance with previous evidence, it shows the benefits of prophylaxis and the advantages that the FIX extended half life products life FIX can offer.
- Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein–Barr Virus InfectionPublication . Sousa Nunes, B; Gouveia, C; Kjollerstrom, P; Farela Neves, JAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
- Eltrombopag Use in Children with Persistent and Chronic Primary Immune Thrombocytopenia in a Portuguese Pediatric CenterPublication . Lopes, C; Castro, A; Maia, R; Batalha, S; Kjöllerström, P