RESUMO
BACKGROUND AND OBJECTIVE: Immune thrombocytopenia (ITP) is a common bleeding disorder in childhood. The management of ITP in children is controversial, requiring personalized assessment of patients and therapeutic choices. Thrombopoietin receptor agonists (TPO-RAs), eltrombopag and romiplostim, have been shown to be safe and effective for the treatment of pediatric ITP. The aim of our research is to define the role of thrombopoietin receptor agonists in the management of pediatric ITP. METHODS: This review focuses on the use of TPO-RAs in pediatric ITP, in randomized trials and in clinical routine, highlighting their key role in the management of the disease. RESULTS: Eltrombopag and romiplostim appear effective treatment options for children with ITP. Several clinical studies have assessed that the use of TPO-RAs increases platelet count, decreases bleeding symptoms and improves health-related quality of life. Moreover, TPO-RAs are well tolerated with minor side effects. CONCLUSION: Although long term efficacy and safety of TPO-RAs still require further investigations, their use is gradually expanding in the clinical practice of children with ITP.
Assuntos
Benzoatos/uso terapêutico , Plaquetas/efeitos dos fármacos , Hidrazinas/uso terapêutico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Pirazóis/uso terapêutico , Receptores Fc/uso terapêutico , Receptores de Trombopoetina/agonistas , Proteínas Recombinantes de Fusão/uso terapêutico , Trombopoetina/uso terapêutico , Adolescente , Fatores Etários , Benzoatos/efeitos adversos , Plaquetas/imunologia , Plaquetas/metabolismo , Criança , Pré-Escolar , Medicina Baseada em Evidências , Feminino , Humanos , Hidrazinas/efeitos adversos , Lactente , Masculino , Púrpura Trombocitopênica Idiopática/sangue , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/imunologia , Pirazóis/efeitos adversos , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Receptores de Trombopoetina/metabolismo , Proteínas Recombinantes de Fusão/efeitos adversos , Transdução de Sinais , Trombopoetina/efeitos adversos , Resultado do TratamentoAssuntos
Fator VIII/uso terapêutico , Hemofilia A/complicações , Hemofilia A/tratamento farmacológico , Tetralogia de Fallot/complicações , Tetralogia de Fallot/cirurgia , Procedimentos Cirúrgicos Cardíacos , Fator VIII/administração & dosagem , Hemofilia A/sangue , Humanos , Lactente , Tetralogia de Fallot/sangue , Resultado do TratamentoRESUMO
BACKGROUND: MiRNAs are a class of small non-coding RNAs that are involved in the post-transcriptional regulation of gene expression. MiRNAs are considered a class of epigenetic biomarkers. These biomarkers can investigate disease at different stages: diagnosis, therapy or clinical follow-up. OBJECTIVE: The aim of this paper is to highlight the innovative use of miRNAs in several childhood diseases. METHODS: We conducted a literature review to search the usage of miRNAs in pediatric clinical routine or experimental trials. RESULTS: We found a possible key role of miRNAs in different pediatric illnesses (metabolic alterations, coagulation defects, cancer). CONCLUSION: The modest literature production denotes that further investigation is needed to assess and validate the promising role of miRNAs as non-invasive biomarkers in pediatric disorders.
Assuntos
MicroRNAs , Neoplasias , Biomarcadores , Biomarcadores Tumorais/genética , Criança , Regulação da Expressão Gênica , Humanos , MicroRNAs/genética , Neoplasias/diagnóstico , Neoplasias/genéticaRESUMO
Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel mutation not yet reported in literature. This 3-years old male child was referred to our Clinical Genetics Unit because of delayed psychomotor development, systolic murmur, dysmorphic facial features, and hypertransaminasemia. The novel JAG1 heterozygous c.2026delT variant in exon 16 was found. JAG1 mutations are classified as protein truncating and non-protein truncating, without any genotype-phenotype correlation. The detected mutation determines a stop codon (p.Cys676AlafsTer67) in the gene sequence, encoding a truncated protein. Our report broadens the spectrum of JAG1 gene mutations.
