RESUMO
INTRODUCTION: Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare monogenic autoimmune disease, which is caused by mutations in the forkhead box protein 3 gene, can affect various systems. The typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases. However, some atypical phenotypes can easily be misdiagnosed clinically. PATIENT CONCERNS: A 9-year-and-7-month old patient suffered from recurrent wheezing, hematochezia, and eczematous dermatitis at the age of six months, but did not have any manifestations of autoimmune endocrinopathy. The patient was treated with glucocorticoids for more than six years, and he developed bronchiectasis. DIAGNOSIS: Whole exome sequencing revealed a hemizygous pathogenic mutation c.1010G>A, p. (Arg337Gln) in Forkhead box protein 3 gene (NM_014009.3). INTERVENTIONS: The patient was treated with oral mycophenolate mofetil combined with inhaled budesonide formoterol for six months after diagnosis. OUTCOMES: The respiratory symptoms of the patient seemed to be controlled but eczematous dermatitis progressed, which led the patient to give up the treatment. CONCLUSION: Early diagnosis and treatment of IPEX are crucial. Lung injury may be a major problem in the later stages of atypical IPEX, and mycophenolate mofetil seems to control the respiratory symptoms, but could induce significant skin side effects.
Assuntos
Diabetes Mellitus Tipo 1/congênito , Diarreia/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças do Sistema Imunitário/congênito , Combinação Budesonida e Fumarato de Formoterol/efeitos adversos , Combinação Budesonida e Fumarato de Formoterol/uso terapêutico , Criança , Diagnóstico Tardio , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/genética , Diarreia/tratamento farmacológico , Diarreia/genética , Proteína Forkhead Box O3/genética , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Doenças do Sistema Imunitário/diagnóstico , Doenças do Sistema Imunitário/tratamento farmacológico , Doenças do Sistema Imunitário/genética , Masculino , Ácido Micofenólico/efeitos adversos , Ácido Micofenólico/uso terapêutico , Mutação Puntual , Medicamentos para o Sistema Respiratório/efeitos adversos , Medicamentos para o Sistema Respiratório/uso terapêuticoRESUMO
OBJECTIVE: To investigate the common causes of recurrent wheezing in young children. METHODS: Electronic bronchoscopy was performed on 67 children with recurrent wheezing or who did not respond to the conventional treatment. RESULTS: The electronic bronchoscopy showed intimitis in trachea and bronchi in 19 cases, intimitis and inflammatory stricture in 11 cases, foreign bodies in the bronchi in 11 cases, trachea and bronchus softening in 19 cases, and bronchopulmonary dysplasia in 3 cases. The other 4 cases presented endometrial tuberculosis, epiglottic cyst, laryngeal papilloma or compression outside trachea (thymus) under the electronic bronchoscope. CONCLUSIONS: In addition to inflammation, trachea and bronchus softening as well as foreign bodies in the bronchi are also the common causes in children with recurrent wheezing or who do not respond to the conventional treatment. Electronic bronchoscopy appears to be an effective way to determine the cause in these children.