RESUMEN
INTRODUCTION: The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil. PATIENTS AND METHODS: This is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, São Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected. RESULTS: Eighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of São Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses. CONCLUSION: The low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary (t).
Asunto(s)
Adenosina Desaminasa , Vasculitis , Humanos , Adenosina Desaminasa/genética , Brasil , Inhibidores del Factor de Necrosis Tumoral , Péptidos y Proteínas de Señalización Intercelular/genéticaRESUMEN
Urticaria diagnosis may be challenging in children since it can be triggered or related to numerous conditions. In this paper, we reviewed the main aspects regarding the diagnosis of urticaria in the pediatric population. Acute urticaria is often due to viral infections. However, other culprits, including foods, insect stings, drugs, contrast media, vaccination, latex, and medical diseases, may account for acute patterns. Laboratory tests and confirmatory allergy tests should be individualized and guided by history. Chronic urticaria (CU) is defined when hives and/or angioedema last for more than 6 weeks. The most common type of chronic urticaria in children is chronic spontaneous urticaria (CSU). Chronic inducible urticaria (CindU) is less common but is important to diagnose in order to manage appropriately and reduce the risk of severe reactions. Inducible forms in children are often diagnosed with specific provocation tests similar to the tests used in adults. Given that chronic urticaria could rarely be a presentation of vasculitis, systemic-onset juvenile idiopathic arthritis, or auto-inflammatory syndromes, it is important to rule out these conditions. It is crucial to differentiate cases of chronic urticaria from mastocytosis and Bradykinin-mediated angioedema, given that treatment may differ. The management of chronic urticaria in children has improved over the last decade because of the development of both clear management guidelines and new effective drugs. It is crucial to increase awareness for appropriate diagnosis and new available treatment to improve the management of chronic urticaria in children.
Asunto(s)
Angioedema , Urticaria Crónica , Urticaria , Adolescente , Adulto , Angioedema/diagnóstico , Niño , Enfermedad Crónica , Humanos , Urticaria/tratamiento farmacológicoRESUMEN
Urticaria diagnosis may be challenging in children since it can be triggered or related to numerous conditions. In this paper, we reviewed the main aspects regarding the diagnosis of urticaria in the pediatric population. Acute urticaria is often due to viral infections. However, other culprits, including foods, insect stings, drugs, contrast media, vaccination, latex, and medical diseases, may account for acute patterns. Laboratory tests and confirmatory allergy tests should be individualized and guided by history. Chronic urticaria (CU) is defined when hives and/or angioedema last for more than 6 weeks. The most common type of chronic urticaria in children is chronic spontaneous urticaria (CSU). Chronic inducible urticaria (CindU) is less common but is important to diagnose in order to manage appropriately and reduce the risk of severe reactions. Inducible forms in children are often diagnosed with specific provocation tests similar to the tests used in adults. Given that chronic urticaria could rarely be a presentation of vasculitis, systemic-onset juvenile idiopathic arthritis, or auto-inflammatory syndromes, it is important to rule out these conditions. It is crucial to differentiate cases of chronic urticaria from mastocytosis and Bradykinin-mediated angioedema, given that treatment may differ. The management of chronic urticaria in children has improved over the last decade because of the development of both clear management guidelines and new effective drugs. It is crucial to increase awareness for appropriate diagnosis and new available treatment to improve the management of chronic urticaria in children (AU)
Asunto(s)
Humanos , Niño , Adolescente , Angioedema/diagnóstico , Urticaria/diagnóstico , Urticaria/tratamiento farmacológico , Angioedema/tratamiento farmacológico , Enfermedad Crónica , Enfermedad Aguda , RecurrenciaRESUMEN
PURPOSE: This study aimed to determine the prevalence and severity of recurrent wheezing (RW) defined as > or =3 episodes of wheezing, risk factors, and treatments prescribed during the first year of life in Latin American infants. METHODS: In this international, cross-sectional, and community-based study, parents of 12,405 infants from 11 centers in 6 South American countries (Argentina, Brazil, Chile, Colombia, Peru, and Uruguay) completed a questionnaire about wheezing and associated risk/protective factors, asthma medications, and the frequency of and indications for the prescription of antibiotics and paracetamol during the first year of life. RESULTS: The prevalence of RW was 16.6% (95% CI 16.0-17.3); of the 12,405 infants, 72.7% (95% CI 70.7-74.6) visited the Emergency Department for wheezing, and 29.7% (27.7-31.7) was admitted. Regarding treatment, 49.1% of RW infants received inhaled corticosteroids, 55.7% oral corticosteroids, 26.3% antileukotrienes, 22.9% antibiotics > or =4 times mainly for common colds, wheezing, and pharyngitis, and 57.5% paracetamol > or =4 times. Tobacco smoking during pregnancy, household income per month <1,000 USD, history of parental asthma, male gender, and nursery school attendance were significant risk factors for higher prevalence and severity of RW, whereas breast-feeding for at least 3 months was a significant protective factor. Pneumonia and admissions for pneumonia were significantly higher in infants with RW as compared to the whole sample (3.5-fold and 3.7-fold, respectively). CONCLUSIONS: RW affects 1.6 out of 10 infants during the first year of life, with a high prevalence of severe episodes, frequent visits to the Emergency Department, and frequent admissions for wheezing. Besides the elevated prescription of asthma medications, there is an excessive use of antibiotics and paracetamol in infants with RW and also in the whole sample, which is mainly related to common colds.