Predominantly antibody deficiency: case report

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
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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.
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主要是抗体缺乏:1例报告
摘要目的:介绍一例先天性免疫错误(IEI)作为儿科复发性感染患者的潜在诊断。描述:患者男,13岁,8个月以来反复腹泻、鼻窦炎、中耳炎、脓肿、尿路感染。10岁时,他出现乳突炎发展为脑膜炎,他被送往三级医院,在那里进行了免疫学评估,结果诊断为主要抗体缺乏症(PAD),疑似x连锁无球蛋白血症(XLA)。治疗开始时,每四周静脉注射400 mg/kg的丙种球蛋白,病情明显改善。讨论:通常,XLA的诊断倾向于在生命的前三年做出。然而,在本报告中,虽然最初的表现在8个月大时开始,但在开始治疗之前却延迟了10年。事实上,如果医疗保健专业人员无法找到反复感染的真正原因,患有IEI的儿童和成人的诊断可能会被推迟。因此,在存在危险体征的情况下考虑这些病理的相关性被强调,因为早期诊断对于治疗和预防发病率至关重要。
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来源期刊
Revista Brasileira de Saude Materno Infantil
Revista Brasileira de Saude Materno Infantil Medicine-Obstetrics and Gynecology
CiteScore
1.00
自引率
0.00%
发文量
24
审稿时长
12 weeks
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.
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