Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D’Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega
{"title":"主要是抗体缺乏:1例报告","authors":"Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D’Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega","doi":"10.1590/1806-9304202300000259-en","DOIUrl":null,"url":null,"abstract":"Abstract Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis, abscesses and urinary tract infections. At the age of ten, he presented mastoiditis progressing to meningitis, he was admitted to a tertiary hospital, where an immunological evaluation was performed, which led to the diagnosis of Predominantly Antibody Deficiency (PAD), with suspected X-linked Agammaglobulinemia (XLA). Treatment was initiated with administration of intravenous gamma globulin 400 mg/kg every four weeks, with a significant improvement of the condition. Discussion: usually, the diagnosis of XLA tends to be made in the first three years of life. However, in this report, although the first manifestations started at eight months of age, there was a delay of ten years before starting the treatment. In fact, the diagnosis of children and adults with IEI can be delayed if healthcare professionals are unable to find the true cause of recurrent infections. Therefore, the relevance of considering such pathologies in the presence of risk signs is highlighted, as early diagnosis being essential in treating and preventing morbidities.","PeriodicalId":35416,"journal":{"name":"Revista Brasileira de Saude Materno Infantil","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Predominantly antibody deficiency: case report\",\"authors\":\"Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D’Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega\",\"doi\":\"10.1590/1806-9304202300000259-en\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis, abscesses and urinary tract infections. At the age of ten, he presented mastoiditis progressing to meningitis, he was admitted to a tertiary hospital, where an immunological evaluation was performed, which led to the diagnosis of Predominantly Antibody Deficiency (PAD), with suspected X-linked Agammaglobulinemia (XLA). Treatment was initiated with administration of intravenous gamma globulin 400 mg/kg every four weeks, with a significant improvement of the condition. Discussion: usually, the diagnosis of XLA tends to be made in the first three years of life. However, in this report, although the first manifestations started at eight months of age, there was a delay of ten years before starting the treatment. In fact, the diagnosis of children and adults with IEI can be delayed if healthcare professionals are unable to find the true cause of recurrent infections. Therefore, the relevance of considering such pathologies in the presence of risk signs is highlighted, as early diagnosis being essential in treating and preventing morbidities.\",\"PeriodicalId\":35416,\"journal\":{\"name\":\"Revista Brasileira de Saude Materno Infantil\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista Brasileira de Saude Materno Infantil\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1590/1806-9304202300000259-en\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Brasileira de Saude Materno Infantil","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/1806-9304202300000259-en","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Abstract Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis, abscesses and urinary tract infections. At the age of ten, he presented mastoiditis progressing to meningitis, he was admitted to a tertiary hospital, where an immunological evaluation was performed, which led to the diagnosis of Predominantly Antibody Deficiency (PAD), with suspected X-linked Agammaglobulinemia (XLA). Treatment was initiated with administration of intravenous gamma globulin 400 mg/kg every four weeks, with a significant improvement of the condition. Discussion: usually, the diagnosis of XLA tends to be made in the first three years of life. However, in this report, although the first manifestations started at eight months of age, there was a delay of ten years before starting the treatment. In fact, the diagnosis of children and adults with IEI can be delayed if healthcare professionals are unable to find the true cause of recurrent infections. Therefore, the relevance of considering such pathologies in the presence of risk signs is highlighted, as early diagnosis being essential in treating and preventing morbidities.
期刊介绍:
The Brazilian Journal of Mother and Child Health is published every three months (March, June, September and December) by Institute of Mother and Child Health, continuing the Revista do IMIP. Aiming at publishing scientific research articles in the field of mother and child health. Contributions should approach different aspects of mother’s health, women’s health and children’s health, covering biomedical, sociocultural and epidemiological determinants.