RESUMO
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that affects the development and growth of various tissues. NF1 is a major risk factor for the development of malignancies, particularly malignant peripheral nerve sheath tumors, optic gliomas, and leukemia. NF1 encodes a neurofibromin. Three genes, EVI2A, EVI2B, and OMGP, are embedded within intron 27b of NF1. However, the function of these genes remains unclear. EVI2A and EVI2B encode for putative transmembrane proteins. Mouse homologs are associated with viral insertions involved in leukemia in mice. Mouse Evi2b has been identified as a direct target gene of C/EBPα, a transcription factor critical for myeloid differentiation. Also possible is that these genes are related to the leukemia observed in patients with NF1. These genes might act as modifiers of NF1 phenotypic variations. Therefore, we investigated the EVI2B gene in leukemia and NF1 tumors. We analyzed DNA from 10, 20, and 3 patients with NF1, leukemia, and NF1-leukemia, respectively, and six NF1 tumor tissues. DNA sequencing analysis was used to identify the viral integration sequence, and the protein amounts and EVI2B gene expression were analyzed by flow cytometry and quantitative real-time PCR techniques. The EVI2B gene expression was increased in cutaneous neurofibroma compared with the control both at the level of protein and mRNA. However, its expression in plexiform neurofibroma was decreased significantly at protein level and increased at mRNA level compare to control. Moreover, integration of 455 bases near the 3' end of the exon was detected. When this integrated sequence was blasted into the NCBI retroviral genome database, an 87% match with the HIV-1 virus envelope gene was obtained. These preliminary results show that EVI2B might be important in NF1 tumorigenesis and leukemia.
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BACKGROUND: Invasive fungal infections (IFIs) are a leading cause of morbidity and death in immunocompromised patients. Data on efficacy and pharmacokinetics of posaconazole in pediatric patients are rare (1 to 5). Herein, we retrospectively analyzed adolescent patients who had received posaconazole as antifungal prophylaxis. METHODS: We retrospectively analyzed patients who received posaconazole as primary or secondary antifungal prophylaxis. RESULTS: A total of 34 adolescent patients, 19 men (55.9%) and 15 women (44.1%) with a mean age of 15.8±2.1 years were included. Twenty-five of 34 (73.5%) patients were on primary and nine of 34 (26.5%) patients were on secondary antifungal prophylaxis. Diagnosis of the patients receiving posaconazole as primary antifungal prophylaxis were acute myeloid leukemia (n=12, 48%), hematopoietic stem cell transplantation (n=7, 28%), acute lymphoblastic leukemia (n=5, 20%), and Fanconi aplastic anemia (n=1, 4%). Five patients (55.6%) with hematopoietic stem cell transplantation, 1 patient with acute myeloid leukemia (11.1%), 1 patient with Fanconi aplastic anemia (11.1%), and 2 (22.2%) patients with chronic granulomatous disease received posaconazole as secondary antifungal prophylaxis. Twelve of 25 (48%) patients receiving posaconazole as primary antifungal prophylaxis were complicated by IFI; 4 of them were proven, 6 probable, and 2 with possible IFI. Three of 9 patients (33.3%) receiving posaconazole as secondary antifungal prophylaxis was complicated by IFI (P=0.29), 2 of them were probable and 1 was possible IFI. Five of 25 patients (20%) receiving posaconazole as primary prophylaxis died because of IFI. CONCLUSION: Improvement of antifungal prophylaxis in patients with high risk of invasive infections seems clearly necessary, and analyzing serum posaconazole levels and individualizing dosing may be 1 approach to improve outcomes.
Assuntos
Antifúngicos/uso terapêutico , Micoses/prevenção & controle , Triazóis/uso terapêutico , Adolescente , Anemia de Fanconi/complicações , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Estimativa de Kaplan-Meier , Leucemia Mieloide Aguda/complicações , Masculino , Micoses/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
BACKGROUND: The purpose of this study was to compare the effectiveness of different oral iron preparations in children with iron deficiency anemia (IDA). METHODS: Sixty children with IDA, aged between 6 months and 180 months, were randomly assigned into three treatment groups. Group I included children with IDA who received ferrous sulfate (Fe-S); Group II included children receiving iron polymaltose complexes (Fe-OH-PM), and Group III included children receiving a single preparation of combined iron and zinc (Fe-Zn). The effect of different iron preparations were evaluated and compared. The duration of treatment was 8 weeks. Hemoglobin (Hgb) levels, as well as other hematological parameters were determined at admission and the first, fourth, and eighth weeks of the treatment. RESULTS: The Hgb levels of patients in all three groups were statistically higher in the fourth (P=0.001) and eighth (P<0.001) weeks compared to baseline; although there was no difference between the groups at the end of the treatment period (P>0.05). CONCLUSIONS: Our results indicate that, Fe-OH-PM and Fe-Zn preparations may also be preferred as a choice like Fe-S for treatment of children with IDA.
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Anemia Ferropriva/tratamento farmacológico , Compostos Férricos/administração & dosagem , Compostos Ferrosos/administração & dosagem , Zinco/administração & dosagem , Administração Oral , Adolescente , Criança , Pré-Escolar , Feminino , Hematínicos/administração & dosagem , Hemoglobinas/metabolismo , Humanos , Lactente , Masculino , Resultado do TratamentoRESUMO
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial hemophagocytic lymphohistiocytosis at Hacettepe University Pediatric Hematology Department, Ankara, Turkey. Mutation analysis was performed on 37 patients, and of these: 11 had UNC13D, 10 had PRF1 and 3 had STX11 gene mutation. Of these patients, 44% were found to have central nervous system involvement on admission and spinal cord involvement was also seen in 5 patients. Remission was achieved in 24 patients with the treatment, in a median time of 76 days (min-max: 15-705 days). Time to remission was prolonged 3.1 times in patients with a ferritin level 1500 mg/dL or more. When patients were grouped according to age [Group 1 (≤ 2 years), Group 2 (>2 years)]; patients in Group 1 had higher ferritin and aspartate aminotransferase levels but lower fibrinogen levels. The 5-year survival rate was also lower in Group 1. When patients in Group 1 were divided into two sub-groups according to hepatic involvement, the 5-year survival rate of patients who had hepatic involvement was significantly lower than those patients without hepatic involvement (0.7%, 27%, respectively) (P=0.002). The 5-year survival rate of patients who underwent hematopoietic stem cell transplantation was significantly higher than the patients who didn't (44%, 16%, respectively) (P=0.02). In conclusion, age two years and under, ferritin level above 1500 mg/dL, spinal cord or hepatic involvement should be considered as poor prognostic factors in familial hemophagocytic lymphohistiocytosis.
Assuntos
Linfo-Histiocitose Hemofagocítica/patologia , Adolescente , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/terapia , Criança , Pré-Escolar , Feminino , Ferritinas/sangue , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Hepatopatias/diagnóstico , Hepatopatias/terapia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/mortalidade , Linfo-Histiocitose Hemofagocítica/terapia , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/terapia , Taxa de SobrevidaRESUMO
Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range, .5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbilical cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 × 106 CD 34+ cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor.
Assuntos
Transplante de Células-Tronco Hematopoéticas/métodos , Teste de Histocompatibilidade/métodos , Diagnóstico Pré-Implantação , Talassemia beta/terapia , Adolescente , Transplante de Medula Óssea , Criança , Pré-Escolar , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Feminino , Sobrevivência de Enxerto , Antígenos HLA/análise , Humanos , Gravidez , Irmãos , Doadores de TecidosRESUMO
GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. The median age of the patients at transplant was 13.5 months (range, 6-58 months). All of the patients developed HLH before HSCT and received HLH 94 or HLH 2004 protocols. Donors were HLA-identical relatives in 8 patients, HLA-mismatched relatives in 2 patients. Engraftment was achieved in all except one patient. None of the patients developed acute GVHD. Chronic GVHD occurred in one and veno-occlusive disease occurred in four patients. Eight of the patients are under remission without any neurologic sequelae-median time of disease-free survival is 92.4 months. The present study shows successful transplant outcome without long-term neurologic sequelae in patients with GS2 who underwent HSCT from HLA-related donors.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência/terapia , Linfo-Histiocitose Hemofagocítica/terapia , Piebaldismo/terapia , Pré-Escolar , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Síndromes de Imunodeficiência/mortalidade , Lactente , Linfo-Histiocitose Hemofagocítica/mortalidade , Masculino , Piebaldismo/mortalidade , Doenças da Imunodeficiência Primária , Taxa de Sobrevida , Resultado do TratamentoRESUMO
BACKGROUND: Computed tomography (CT) is commonly used to detect pulmonary infection in immunocompromised children. OBJECTIVE: To compare MRI and multidetector CT findings of pulmonary abnormalities in immunocompromised children. MATERIALS AND METHODS: Seventeen neutropaenic children (6 girls; ages 2-18 years) were included. Non-contrast-enhanced CT was performed with a 64-detector CT scanner. Axial and coronal non-enhanced thoracic MRI was performed using a 1.5-T scanner within 24 h of the CT examination (true fast imaging with steady-state free precession, fat-saturated T2-weighted turbo spin echo with motion correction, T2-weighted half-Fourier single-shot turbo spin echo [HASTE], fat-saturated T1-weighted spoiled gradient echo). Pulmonary abnormalities (nodules, consolidations, ground glass opacities, atelectasis, pleural effusion and lymph nodes) were evaluated and compared among MRI sequences and between MRI and CT. The relationship between MRI sequences and nodule sizes was examined by chi- square test. RESULTS: Of 256 CT lesions, 207 (81%, 95% confidence interval [CI] 76-85%) were detected at MRI. Of 202 CT-detected nodules, 157 (78%, 95% CI 71-83%) were seen at motion-corrected MRI. Of the 1-5-mm nodules, 69% were detected by motion-corrected T2-weighted MRI and 38% by HASTE MRI. CONCLUSION: Sensitivity of MRI (both axial fat-saturated T2-weighted turbo spin echo with variable phase encoding directions (BLADE) images and HASTE sequences) to detect pulmonary abnormalities is promising.
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Neoplasias Hematológicas/complicações , Hospedeiro Imunocomprometido , Pneumopatias/diagnóstico por imagem , Pneumopatias/microbiologia , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada Multidetectores/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Fanconi anemia (FA) is a heterogeneous autosomal recessive (and rarely X linked) disorder, which is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancies. Hematopoietic stem cell transplantation (HSCT) is the only definitive treatment for the hematological manifestations in FA. PROCEDURE: Twenty-seven patients with FA underwent HSCT using fludarabine (Flu) based regimen at our center between April 2004 and May 2014. One patient who developed acute leukemia before HSCT was excluded from the study. The remaining 26 patients were included. The median age of the patients at the time of transplantation was 9.6 years (range 5.6-17.0 years) and male/female ratio was 19/7. Donors were Human leukocyte antigen (HLA)-identical sibling in 18 patients, HLA-identical other relatives in six patients, and HLA 1-antigen mismatched sibling in two patients. Conditioning regimen consisted of Flu, cyclophosphamide, and antithymocyte globulin. RESULTS: All patients engrafted but one developed poor graft function and underwent second HSCT. Acute graft versus host disease (GVHD) (≥grade 2) occurred in two patients (7.6%) and chronic GVHD in one patient (3.9%). Three patients developed venoocclusive disease (11.5%). Survival rate was 96.2% (25/26) at a median follow-up of 54 months (10-131 months) and all patients who survived were in good clinical condition. None of the patients developed secondary malignancy during the follow-up period. CONCLUSIONS: The present study from Turkey, a middle-income country, shows successful transplant outcome with low toxicity using Flu-based conditioning in patients with FA who underwent HSCT from HLA-related donors.
Assuntos
Anemia de Fanconi/cirurgia , Transplante de Células-Tronco Hematopoéticas/métodos , Agonistas Mieloablativos/administração & dosagem , Condicionamento Pré-Transplante/métodos , Vidarabina/análogos & derivados , Adolescente , Soro Antilinfocitário/administração & dosagem , Soro Antilinfocitário/efeitos adversos , Criança , Pré-Escolar , Ciclofosfamida/administração & dosagem , Ciclofosfamida/efeitos adversos , Feminino , Doença Enxerto-Hospedeiro/epidemiologia , Humanos , Masculino , Agonistas Mieloablativos/efeitos adversos , Doadores de Tecidos , Turquia , Vidarabina/administração & dosagemRESUMO
Hypercalcemia is a rare complication of hematological malignancy in children. An 8-year-old girl with CALLA (+) Pre-B-cell ALL developed hypercalcemia during bone marrow relapse. She had nausea, vomiting, leg pain, polyuria, polydipsia, and muscle weakness. At the time of relapse, the ionized calcium level was 1.99 mmol/L. Rehydration with 0.9% saline and furosemide and methylprednisolone (MP) treatment were used for the treatment of hypercalcemia. The serum ionized calcium level increased to 2.2 mmol/L despite hydration, furosemide, and MP treatment. Then, a single-dose pamidronate (1 mg/kg/dose) was administered. Despite pamidronate treatment, the calcium level continued to rise. Next, calcitonin at a dose of 8 IU/kg/dose, 4 doses per day, was added to the treatment. After commencement of calcitonin treatment, her ionized calcium level decreased to normal reference ranges. In conclusion, because of the postponed effect of bisphosphonate treatment, pamidronate and calcitonin combination is an effective treatment option in the early resolution of malignancy-related hypercalcemia.
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Conservadores da Densidade Óssea/uso terapêutico , Hipercalcemia/tratamento farmacológico , Hipercalcemia/etiologia , Recidiva Local de Neoplasia/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Calcitonina/uso terapêutico , Criança , Difosfonatos/uso terapêutico , Feminino , HumanosRESUMO
The aim was to evaluate baseline demographic, clinical, and laboratory characteristics, treatment modalities, and outcome of children with idiopathic hypereosinophilic syndrome (HES) followed up in our center. Children who fulfilled the criteria of idiopathic HES followed up at Hacettepe University Faculty of Medicine, Pediatric Hematology Department between June 2004 and October 2013 were included in this study. Medical records of all children with idiopathic HES were reviewed to obtain regarding data. The mean age of 6 children with idiopathic HES was 52.8±44.3 months (13 to 132 mo) at diagnosis. Among 6 children with idiopathic HES; 2 had pulmonary involvement; 1 had cardiac and pulmonary involvement and splenomegaly; 1 had cardiac involvement and hepatosplenomegaly; 1 had cardiac and central nervous system involvement; and 1 had skin involvement. The mean follow-up duration was 36.5±31.4 months. Methyl prednisolone (MP) was used for the first-line therapy. Complete response was achieved with MP in 3 children. All steroid responsive children are alive; whereas 3 children who did not respond to MP had expired. In conclusion, cardiac and pulmonary involvement is the major causes of mortality in HES. Resistance to steroid therapy indicates poor prognosis.
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Síndrome Hipereosinofílica/terapia , Criança , Pré-Escolar , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Masculino , Metilprednisolona/uso terapêuticoRESUMO
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic condition characterized by headache, seizures, impaired vision, acute hypertension, and typical cranial MRI findings. OBSERVATION: A 10-year-old boy with FLT3-ITD-positive acute myelogenous leukemia who developed PRES during sorafenib treatment has been presented here. In English literature, there are 2 adult patients with metastatic cholangiocarcinoma or hepatocellular carcinoma who developed PRES under sorafenib treatment. Our patient is the first pediatric case with the diagnosis of acute myelogenous leukemia who developed PRES that might be attributed to sorafenib use. CONCLUSIONS: Thus, PRES might be a rare, potentially serious, but manageable, side effect of sorafenib that should be kept in mind by pediatric hematologists and oncologists.
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Antineoplásicos/efeitos adversos , Leucemia Mieloide Aguda/tratamento farmacológico , Niacinamida/análogos & derivados , Compostos de Fenilureia/efeitos adversos , Síndrome da Leucoencefalopatia Posterior/induzido quimicamente , Tirosina Quinase 3 Semelhante a fms/genética , Criança , Humanos , Leucemia Mieloide Aguda/genética , Masculino , Recidiva Local de Neoplasia/tratamento farmacológico , Niacinamida/efeitos adversos , Terapia de Salvação/métodos , SorafenibeRESUMO
Macrophage activation syndrome (MAS) is a hyper-inflammatory disorder secondary to a rheumatic disease such as systemic juvenile idiopathic arthritis (SJIA) and systemic lupus erythematosus (SLE). We aimed to present the characteristics of our pediatric MAS patients. Clinical features, laboratory parameters, treatment, and outcome of 34 patients (28 SJIA; six SLE; 37 MAS episodes) followed at a tertiary health center between 2009 and 2015 were retrospectively reviewed. The median age at MAS onset was 11 years. More SJIA patients had MAS at disease onset than SLE patients (53.6 vs. 16.7 %). Fever, high C-reactive protein and hyperferritinemia were present in all MAS episodes. Rash was less (p = 0.03), and fatigue was more frequent (p = 0.042) in SLE than SJIA patients. All received corticosteroids. Cyclosporine was given in 74.2 % of SJIA-MAS; 66.7 % of SLE-MAS episodes. Intravenous immunoglobulin, anakinra, or etoposide was administered during 67.7; 41.9; 32.3 % of SJIA-MAS and 33.3; 33.3; 50 % of SLE-MAS episodes, respectively. Plasmapheresis was performed during 41.9 % of SJIA-MAS and 33.3 % of SLE-MAS episodes. The mortality rate was 11.8 % (n = 4;3 SJIA, 1 SLE). Hepatosplenomegaly was more frequent (p = 0.005), and plasmapheresis was performed more frequently (p = 0.021) in the patients who died compared to the cured patients. The median duration between symptom onset and admission to our hospital was longer among the patients who died (16.5 vs. 7 days; p = 0.049). Our patients' characteristics were similar to the reported cases, but our mortality rate is slightly higher probably due to late referral to our center. Early diagnosis and effective treatment are crucial to prevent mortality.
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Artrite Juvenil/complicações , Lúpus Eritematoso Sistêmico/complicações , Síndrome de Ativação Macrofágica/complicações , Adolescente , Corticosteroides/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Criança , Pré-Escolar , Ciclosporina/uso terapêutico , Fadiga/complicações , Feminino , Humanos , Imunossupressores/uso terapêutico , Lactente , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Síndrome de Ativação Macrofágica/tratamento farmacológico , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
The use of cardiac and hepatic T2* MRI measurements to predict the amount of iron accumulation in these organs has been studied extensively and was suggested to be used reliably. However, it may not be practical to screen other organs with MRI related to economical issues and also the prolonged imaging durations. Herein, we aimed to test the use of fasting glucose, fasting, and postprandial insulin, homeostasis model assessment-insulin resistance (HOMA-IR) (calculated as insulin (µIU/ml) × glucose (mg/dl)/22.5), and homeostasis model assessment B score (HOMA-B) (calculated as insulin (µIU/ml) × 20/glucose (mg/dl) - 3.5) to estimate the tissue iron measured with MRI. A total of 37 patients with ß-thalassemia major (BTM), age 20.8 ± 6.3 years (7.1-36.8), were enrolled. MRI measurements were done concomitantly to the biochemical tests for glucose metabolism. A positive correlation between HOMA-IR and hepatic iron loading and a negative correlation between pancreatic T2* and fasting blood glucose were found. A positive correlation was found between fasting insulin levels and pancreatic R2* measures. Additionally, a correlation was detected between cardiac and pancreatic iron accumulations. In centers where T2*/R2* MRI facilities are unavailable, fasting insulin, fasting glucose, and HOMA-IR measurements may be used to predict iron overload and may urge the physician for MRI assessment in case of a deterioration in these biochemical tests. Since hepatic iron loading correlated with insulin resistance development, the insulin resistance among patients with BTM may partially be explained with decreased hepatic insulin clearance from heavily iron-loaded liver.
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Progressão da Doença , Glucose/metabolismo , Sobrecarga de Ferro/metabolismo , Fígado/metabolismo , Pâncreas/metabolismo , Talassemia beta/metabolismo , Adolescente , Adulto , Biomarcadores/metabolismo , Glicemia/metabolismo , Criança , Feminino , Humanos , Sobrecarga de Ferro/diagnóstico , Sobrecarga de Ferro/epidemiologia , Imageamento por Ressonância Magnética/métodos , Masculino , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/epidemiologiaRESUMO
BACKGROUND: The aim of this study was to describe the incidence and contributory risk factors for thromboembolic complications in children with nephrotic syndrome (NS) and thrombosis. METHODS: Among 188 children with the diagnosis of NS (80 girls; mean age: 12.6 ± 5.4 years) followed up in our hospital for the last 5 years, 17 (9.0 %) children (16 boys) identified as having thromboembolic complications. All 17 children with NS and thrombosis were screened for laboratory risk factors for thrombosis. The diagnosis was confirmed by cranial magnetic resonance imaging, doppler ultrasonography, and echocardiography. RESULTS: Among 17 children with thrombosis, 14 (82.3 %) were found to have focal segmental glomerulosclerosis (FSGS) as underlying pathology by renal biopsy. The mean age of the thrombotic children was 4.5 ± 3.2 years at the diagnosis of NS and that was 7.1 ± 4.9 years at the time of thrombosis. The mean time from NS diagnosis to the first thrombosis development was 2.6 ± 2.3 years. Thrombosis occurred during the first year of NS in 9/17 (52.9 %) children. Most of the children (88.2 %) had venous thrombosis. Among the screened risk factors, high factor VIII level (64.7 %) was the leading factor followed by decreased antithrombin III level (29.4 %). Furthermore, 4 children had central venous catheters and 2 had infection as clinical risk factors for thrombosis. CONCLUSION: In this case series, subtype of FSGS, active disease state of NS, central venous catheters, and some inherited and acquired thrombotic risk factors have been identified as contributory factors for the development of thrombosis in children with NS.
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Síndrome Nefrótica/complicações , Trombose Venosa/epidemiologia , Trombose Venosa/etiologia , Adolescente , Idade de Início , Antitrombina III/metabolismo , Aspirina/uso terapêutico , Infarto Encefálico/tratamento farmacológico , Infarto Encefálico/etiologia , Cateteres Venosos Centrais/efeitos adversos , Criança , Pré-Escolar , Fator VIII/metabolismo , Feminino , Fibrinolíticos/uso terapêutico , Seguimentos , Glomerulosclerose Segmentar e Focal/complicações , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Incidência , Lactente , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mutação , Síndrome Nefrótica/sangue , Síndrome Nefrótica/diagnóstico , Fatores de Risco , Trombectomia , Fatores de Tempo , Turquia/epidemiologia , Trombose Venosa/sangue , Trombose Venosa/terapiaRESUMO
Basal cell carcinoma (BCC) is a rare secondary malignancy which may occur more often in children with acute lymphoblastic leukemia (ALL) who have previously received radiation therapy compared to to those who received no radiation.
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Carcinoma Basocelular/etiologia , Neoplasias Induzidas por Radiação/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/radioterapia , Neoplasias Cutâneas/etiologia , Adolescente , Biópsia , Carcinoma Basocelular/diagnóstico , Criança , Feminino , Humanos , Segunda Neoplasia Primária , Couro Cabeludo , Neoplasias Cutâneas/diagnósticoRESUMO
Acute megakaryoblastic leukemia (AMKL) with t(1;22) (p13;q13) is an extremely rare subtype of acute myeloid leukemia that is almost always described in infants. t(1;22) (p13;q13)-positive AMKL with extramedullary infiltration has been previously reported only once in the literature. Herein, we report a 3-month-old infant presenting with a pelvic mass and pancytopenia suggesting neuroblastoma. Bone marrow evaluation revealed t(1;22)-positive AMKL that responded well to a regimen containing high-dose cytarabine.
RESUMO
Homozygous protein C deficiency is among rare causes of thrombophilia. Herein, we present a neonate with purpura fulminans, disseminated intravascular coagulation and severe intracranial hemorrhage who was found to have plasma protein C level of 4%. The molecular work-up revealed a novel homozygous mutation of T903C (amino acid position Leu 270 Pro) located in a catalytic domain region of PROC gene. Asymptomatic course in patients with low but measurable levels of protein C levels has been reported, which is different than observed in our patient who had a very severe course despite plasma protein C level of 4%.
Assuntos
Coagulação Intravascular Disseminada/etiologia , Hemorragias Intracranianas/etiologia , Mutação/genética , Deficiência de Proteína C/complicações , Proteína C/genética , Púrpura Fulminante/etiologia , Coagulação Intravascular Disseminada/patologia , Homozigoto , Humanos , Recém-Nascido , Hemorragias Intracranianas/patologia , Masculino , Fenótipo , Prognóstico , Deficiência de Proteína C/genética , Púrpura Fulminante/patologiaRESUMO
BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center. MATERIALS AND METHODS: The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations. RESULTS: Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia. CONCLUSIONS: We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation.
Assuntos
Anemia Ferropriva/etiologia , Antígenos/genética , Nanismo/complicações , Leucocitose/etiologia , Microcefalia/complicações , Mutação/genética , Osteocondrodisplasias/complicações , Trombocitose/etiologia , Anemia Ferropriva/diagnóstico , Criança , Pré-Escolar , Nanismo/genética , Feminino , Retardo do Crescimento Fetal/genética , Seguimentos , Humanos , Lactente , Leucocitose/diagnóstico , Masculino , Microcefalia/genética , Osteocondrodisplasias/genética , Prognóstico , Trombocitose/diagnósticoRESUMO
CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.