Autoinflammatory diseases: a Latin American multicenter study according to age and sex / Doenças autoinflamatórias: um estudo multicêntrico latino-americano de acordo com o sexo e a idade

ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0-15.6 years) and median age at diagnosis 6.9 years (0-21.9 years); 111 (73%) were children (0-9 years old), and 41 (27%) were adolescents and young adults (AYA) (10-21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis.

RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0-15,6 anos) e a média de idade de diagnóstico 6,9 anos (0-21,9 anos); 111 (73%) eram crianças (0-9 anos) e 41 (27%) adolescentes/adultos jovens (10-21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença.

Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study / 中国当代儿科杂志

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.

Síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis / Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Introducción: El síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis es un cuadro relativamente frecuente de curso autolimitado y buen pronóstico. Es la más común de las enfermedades autoinflamatorias que presentan fiebre recurrente y su etiología y fisiopatogenia permanecen inciertas. Objetivo: Describir el caso clínico de un niño que consultó por fiebre recurrente y faringitis y se arribó al diagnóstico de síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis. Presentación del caso: Se trata de un paciente de 5 años que consultó por un episodio febril acompañado de faringitis y adenitis, con antecedente de múltiples episodios previos. Conclusiones: El síndrome fiebre periódica, estomatitis aftosa, faringitis y adenitis, es una entidad de curso benigno y autolimitado que constituye la causa más común de fiebre recurrente con un gran impacto en la vida de los pacientes. La fisiopatogenia permanece incierta. Es destacable la sospecha clínica para arribar al diagnóstico ya que no existen en la actualidad exámenes complementarios específicos(AU)

Introduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a relatively common picture of self-limiting course and good prognosis. It is the most common of self-inflammatory diseases with recurrent fever and its etiology and physiopathology remain uncertain. Objective: Describe the clinical case of a boy who was checked due recurrent fever and pharyngitis and being diagnosed with Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. Case presentation: This is a 5-year-old patient who was consulted due to a febrile episode accompanied by pharyngitis and adenitis, with a history of multiple previous episodes. Conclusions: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a benign, self-limiting course entity that is the most common cause of recurrent fever with a large impact on patients' lives. Its physiopathology remains uncertain. Clinical suspicion for diagnosis is noteworthy as there are currently no specific complementary test for it(AU)

Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings

Mevalonate kinase deficiency (MKD) is a rare autosomalrecessive autoinflammatory disease caused by mutations inMVK. We report two siblings with MKD, presenting withrecurrent febrile illnesses, detected to have compoundheterozygous variants in MVK. MKD mimics common pediatricconditions and should be considered as a differential diagnosis.

Síndrome PFAPA: reporte de un caso clínico / PFAPA syndrome: a case report

El síndrome PFAPA es la entidad más frecuente dentro de los síndromes de fiebres periódicas que pueden manifestarse desde la infancia. Es un síndrome autoinflamatorio caracterizado por una disfunción en las citoquinas, de carácter autolimitado y de etiología desconocida, aunque se han reportado casos de presentación familiar; lo que sugiere la existencia de una base genética de la enfermedad. Se presenta con episodios febriles que suelen acompañarse de aftas orales, adenopatías cervicales, faringoamigdalitis y síntomas constitucionales. En los exámenes de laboratorio es frecuente encontrar elevación marcada de la proteína C reactiva, leucocitosis y aumento de IgG, IgA e IgM. El diagnóstico se realiza utilizando los criterios modificados de Thomas, que incluyen parámetros clínicos, antecedentes y diagnósticos de exclusión. Se presenta el caso de un paciente de 4 años de edad que consultó a un hospital por un cuadro febril, movimientos tónico-clónicos generalizados, desviación de la mirada, sialorrea y relajación de esfínteres. También presentó cefalea de localización frontal y odinofagia. En la cavidad oral se observaron lesiones tipo aftas, y se evidenciaron adenopatías cervicales. El paciente no respondió al manejo con antibióticos, y se observó que cumplía con los criterios de diagnóstico para síndrome PFAPA, luego de descartarse un proceso infeccioso. Se inició terapia con corticoides con respuesta favorable y se concluyó que el paciente tenía un cuadro compatible con síndrome PFAPA.

PFAPA syndrome is the most frequent illness within the syndromes of periodic fevers manifesting during childhood. It is an auto-inflammatory syndrome characterized by cytokine dysfunction, a self-limiting nature, and unknown etiology; family cases have been reported, suggesting the existence of a genetic basis for the disease. PFAPA syndrome is manifested with febrile episodes that are usually accompanied by oral aphthae, cervical adenopathy, pharyngotonsillitis and constitutional symptoms. In laboratory tests, it is common to find marked elevation of C reactive protein, leukocytosis and increased IgG, IgA and IgM levels. Diagnosis is reached by means of the modified Thomas criteria that include clinical parameters, personal and family history, and exclusion diagnoses. The case of a 4-year-old patient who visited the hospital with fever, generalized tonic-clonic seizures and sphincter relaxation is presented. The patient reported frontal headache and odynophagia. Aphthous stomatitis was observed, and cervical adenopathies were evident. The patient did not respond to antibiotic therapy, and met the diagnostic criteria for PFAPA syndrome after an infectious process was ruled out. Corticosteroid therapy was initiated with a favorable response. It was concluded that the patient had a diagnosis compatible with PFAPA syndrome

Clinical characteristics of autoinflammatory diseases: a retrospective analysis in a single centre over a 5-year period / 中国实用内科杂志

OBJECTIVE: This study is aimed to evaluate the features in patients with autoinflammatory diseases and to assess the applicability of the international clinical diagnostic criteria for autoinflammatory diseases in these patients. METHODS: We retrospectively reviewed clinical data patients with autoinflammatory diseases in Peking University First Hospital within 5 year.RESULTS: Totally 50 patients were included. Eighteen patients experienced their first attack before 18 years of age, and 32 patients were with adult onset. The median age at onset was 25.5 years(range 1-74); 35(70%) cases experienced recurrent episodes of fever;15(30%) cases had continuous fever. Inflammatory markers were elevated in most patients during fever attack, and reduced in period with no symptoms. All of patients had one or more sequence variants(SVs). MEFV gene mutations were the most common and all SVs were heterozygous.The most frequent genotype was E148 Q(23 patients 50%).Only 5 MEFV SVs cases(10.8%)were up to the familial Mediterranean fever(FMF) Tel Hashomer clinical criteria. Totlly 7 patients were diagnosed with single-gene hereditary autoinflammatory disease. CONCLUSION: Most patients in the study didn't show typical clinical features or typical gene mutations. The international diagnostic criteria of autoinflammatory diseases is not applicable to the patients in this study.

The 468th case: periodic fever, abdominal pain, small intestinal ulcers, NOD2 gene mutation / 中华内科杂志

Fever and abdominal pain are common symptoms and could be main manifestations in patients with autoinflammatory diseases.A 48-year-old female patient was admitted with recurrent fever and abdominal pain for 9 years.Serum level of inflammatory markers synchronously fluctuated with fever,and returned to normal when fever subsided.The periodic episodes of fever occurred every 1 to 4 months and failed to respond to empirical antibiotics.Whole exome sequencing showed heterozygous mutation of NOD2 gene q902k,leading to the final diagnosis of autoinflammatory disease.Corticosteroid and tripterygiumglycosides were effective for the disease remission.

Diretrizes de conduta e tratamento de síndromes febris periódicas: síndrome de febre periódica, estomatite aftosa, faringite e adenite / Guidelines for the management and treatment of periodic fever syndromes: periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Resumo Objetivo: Estabelecer diretrizes baseadas em evidências científicas para manejo da síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA). Descrição do método de coleta de evidência: A Diretriz foi elaborada a partir de cinco questões clínicas que foram estruturadas por meio do Pico (Paciente, Intervenção ou Indicador, Comparação e Outcome), com busca nas principais bases primárias de informação científica. Após definir os estudos potenciais para sustento das recomendações, esses foram graduados pela força da evidência e pelo grau de recomendação. Resultados: Foram recuperados e avaliados pelo título e resumo 806 trabalhos e selecionados 32 artigos, para sustentar as recomendações. Recomendações: 1. O diagnóstico da PFAPA é clínico e de exclusão, deve a suspeita ser considerada em crianças que apresentam episódios febris de origem indeterminada recorrentes e periódicos ou amidalites de repetição, intercalados com períodos assintomáticos, sobretudo em crianças em bom estado geral e com desenvolvimento pondero-estatural mantido; 2. Os achados laboratoriais são inespecíficos. Não existem alterações patognomônicas nos exames complementares; 3. A evidência que sustenta a indicação do tratamento cirúrgico (tonsilectomia com ou sem adenoidectomia) é baseada em dois ensaios clínicos randomizados não cegos que incluíram pequeno número de pacientes; 4. O uso de prednisona no início do quadro febril em pacientes com PFAPA mostrou ser eficaz. Melhores evidências ainda são necessárias para apoiar seu uso na PFAPA; 5. Apesar de os resultados obtidos de estudos com inibidores de IL-1ß serem promissores, esses são limitados a poucos relatos de casos.

Abstract Objective: To establish guidelines based on scientific evidence for the management of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Description of the evidence collection method: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Results: 806 articles were retrieved and evaluated by title and abstract; from these, 32 articles were selected to support the recommendations. Recommendations: 1. PFAPA is a diagnosis of exclusion established on clinical grounds, and one must suspect of this problem in children with recurrent and periodic febrile episodes of unknown origin, or with recurrent tonsillitis interspersed with asymptomatic periods, especially in children in good general condition and with preservation of weight and height development. 2. Laboratory findings are nonspecific. Additional tests do not reveal pathognomonic changes. 3. The evidence supporting an indication for surgical treatment (tonsillectomy with or without adenoidectomy), is based on two non-blinded randomized clinical trials with small numbers of patients. 4. The use of prednisone at the onset of fever in patients with PFAPA proved to be an effective strategy. There is still need for more qualified evidence to support its use in patients with PFAPA. 5. Despite promising results obtained in studies with IL-1β inhibitors, such studies are limited to a few case reports.

Síndrome PFAPA. ¿Cuándo sospecharlo?

Introducción: El síndrome de Marshall o PFAPA, por sus siglas en inglés (Periodic fever, aphtas, pharyngitis and cervical adenopathies), es una patología que se caracteriza principalmente por cuadros de ebres periódicas asociadas a faringitis y estomatitis. Los pacientes suelen recibir múltiples cursos de antibióticos antes de ser diagnosticados. Se desconoce su causa exacta, el diagnóstico es clínico y se con rma con la mejoría del cuadro luego de la administración de prednisona oral. Caso clínico: Se presenta el caso de una paciente de 4 años de edad quien inició con episodios febriles recurrentes desde los 9 meses de edad y luego de múltiples ciclos de antibióticos se sospecha el Síndrome de Marshall el cual mejoró luego del abordaje terapeútico dirigido. Discusión: El síndrome de Marshall o PFAPA es una entidad que debe ser considerada durante la atención primaria en aquellos pacientes que acuden frecuentemente por cuadros de ebre, faringitis y estomatitis aftosas. La sospecha de este diagnóstico mejora la calidad de vida del paciente y sus familiares considerando la ansiedad que produce a los padres llevar a su niño con frecuencia al cuarto de urgencias.

Introduction: Marshall syndrome or PFAPA (Periodic fever, aphtas, pharyngitis and cervical adenopathies), is a condition that is mainly characterized by periodic fevers associated with pharyngitis and stomatitis. Patients usually receive multiple courses of antibiotics before being diagnosed. The exact cause is unknown, the diagnosis is clinical and con rmed with the improvement of the condition after administration of oral prednisone. Case report: We report a case of a 4 year old girls who started with recurrent febrile episodes from 9 months and after multiple courses of antibiotics, Marshall Syndrome was suspected and patient improved after targeted therapy. Discussion: Marshall Syndrome or PFAPA is a condition that must be considered during primary care attention of those patients who frequently consult by cyclic episodes of fever, pharyngitis and aphthous stomatitis. The suspicion of this diagnosis improves the quality of life of patients and their families considering the anxiety of parents who needs to take their child to the emergency

Familial Mediterranean Fever With Complete Symptomatic Remission During Pregnancy

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a case of adult-onset FMF with complete symptomatic remission during pregnancy, without the use of colchicine. A 25-year-old woman had presented with periodic fever, abdominal pain, and vomiting since she was 21. Her abdominal computed tomography scan showed intestinal nonrotation. She underwent exploratory laparotomy and appendectomy for her symptoms 1 year prior. She had a symptom-free pregnancy period, but abdominal pain and fever recurred after delivery. Mutation analysis of the MEFV gene revealed two point mutations (p.Leu110Pro and p.Glu148Gln). We report an adult female patient with FMF in Korea with complete symptomatic remission during pregnancy.

<b>A Case of Recurrent Fever Successfully Treated with Yokukansan</b> / 日本東洋医学雑誌

The patient was a 14 year-old female. She had been hospitalized repeatedly since infancy for suspected tonsillitis. During this time, she experienced high fever for about a week once a month. In her school years, she often had a recurrent fever with cervical adenitis, with only a mild inflammatory reaction. We diagnosed her symptom as one of a periodic fever syndrome, triggered by the frequent administered antipyretic drugs for fevers of unknown origin (FUO). We also suspected that there was liver tension, based on her abdominal and back examination, and we prescribed yokukansan. After a 3-month course of yokukansan, she no longer experienced these fevers. Most case reports of FUO describe the use of bupleurum root drugs and tonic formulas as treatment. Although yokukansan has traditionally been used for FUO in older texts, to our knowledge, there are no reports on such use clinically. In the present patient's case, the yokukansan may have reduced or eliminated some type of trigger for the fevers, or it may have affected the regulation of cytokines.

Familial Mediterranean Fever: The First Adult Case in Korea

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.

Familial Mediterranean Fever: The First Adult Case in Korea

Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.

Autoinmunidad y autoinflamación / Autoimmunity and autoinflammation

Objetivo: exponer los aspectos que tienen en común o aquellos que diferencien las condiciones autoinmunes y autoinflamatorias, con énfasis en los mecanismos relacionados con la inmunidad innata. Métodos: se realiza una revisión sistemática de la literatura médica expuesta en la base de datos Medline (en lo que respecta a trabajos originales y revisiones de tema de los autores de dichos trabajos), de aspectos de la inmunidad innata y su relación con las enfermedades autoinmunes y autoinflamatorias, utilizando términos "MESH" como "autoimmuny diseases, autoinflammatory diseases, periodic fever syndromes, Toll-like receptor, NOD-like receptor" y otros que fuesen necesarios para lograr el objetivo de la revisión. Se procede luego a la consecución de los artículos completos, a su lectura, complementación con artículos referenciados relevantes, y luego se procede al ordenamiento, clasificación y posterior redacción del texto. Resultados: se estudiaron 254 resúmenes, encontrando que 44 de ellos informaban los tópicos que ayudarán a desarrollar el objetivo de esta revisión. Fue necesario acudir a algunas ayudas extras en libros de inmunología, reumatología, biología molecular y biología celular, para complementar la actualización. Conclusión: apenas se inicia el conocimiento científico de los posibles enlaces directos de la respuesta inmune innata y adaptativa, en lo que respecta a las condiciones autoinmune y autoinflamatoria (Acta Med Colomb 2011; 36: 78-84).

Objetive: to show the common aspects and the differences of autoimmune and autoinflammatory conditions, with an emphasis on the mechanisms of innate immunity. Methods: a systematic review of the literature was performed, using the Medline database, in order to identify original research studies and reviews by the authors of these studies on the topic of innate immunity and its relations with autoimmune and autoinflammatory diseases. "MESH" terms such as autoimmune diseases, autoinflammatory diseases, periodic fever syndromes, Toll-like receptor, NOD-like receptor, and others were necessary to achieve the objective of the review. Sorting, reading, and writing were then carried out. Results: 254 abstracts were studied, 44 of which reported the topics related to the objective of this review. It was necessary to perform a complementary review of textbooks of immunology, rheumatology, molecular biology, and cell biology to achieve the objective of this review. Conclusion: scientific knowledge of the possible links between the innate and adaptive immune responses has just begun with regard to autoimmune and autoinflammatory conditions (Acta Med Colomb 2011; 36: 78-84).

Indicaciones no tradicionales de amigdalectomía: [revisión] / Nontraditional indications for tonsillectomy: [review]

La amigdalectomía es la intervención quirúrgica más frecuente en otorrinolaringología y sus indicaciones son ampliamente conocidas en la especialidad. El avance en el conocimiento de sus funciones inmunológicas ha determinado su uso en el tratamiento de otras enfermedades tales como la nefropatía por IgA, síndromes neuropsiquiátricos, el síndrome de fiebre recurrente, algunas entidades dermatológicas, entre otras. Pretendemos así, revisar la literatura para evaluar la evidencia disponible que sustente lo que denominamos indicaciones no tradicionales. Al parecer, la evidencia a favor del uso de amigdalectomía en el tratamiento de algunas de estas enfermedades es sólido, mientras que para otras aún no supera la suposición teórica, pues sólo se cuenta con casos aislados. Consideramos necesario estudios más extensos, con mayor calidad metodológica para definir mejor la indicación de amigdalectomía. Esto, más la evaluación multidisciplinaria de cada caso nos debiera conducirá la mejor decisión.

Tonsillectomy is the most common surgical procedure in otorhinolaryngology and their indications are well known in the field. The advance in knowledge of their immune function has determined its use in the treatment of other diseases such as IgA nephropathy neuropsychiatric syndromes, periodic fever syndrome, some dermatologic entities, and others. We review the literature to evaluate the available evidence that supports what we cali nontraditional indications. Apparently the evidence for the use of tonsillectomy in the treatment of some diseases is solid, while others still not overcome the theoretical assumption, since there are only isolated cases. Larger studies are needed to consider, with higher methodological quality, to better define the indication for tonsillectomy. This and the multidisciplinary assessment of each case should lead us to the best decision.

Mediastinal Tuberculous Lymphadenitis with Periodic Fever / 감염과화학요법

A 60-year-old man undergoing maintenance hemodialysis presented with periodic fever, which resembled Pel-Ebstein fever of Hodgkin's lymphoma. Despite scores of diagnostic evaluations, origin of the fever remained obscure. On positron emission tomography/computed tomography scan, focal hot uptakes were seen in the mediastinum and mediastinoscopic biopsy showed many acid-fast bacilli with chronic granulomatous inflammation and necrosis. After a week of anti-tuberculosis medication, the patient remained afebrile without recourse to antipyretics.

Mediastinal Tuberculous Lymphadenitis with Periodic Fever / 감염과화학요법

A 60-year-old man undergoing maintenance hemodialysis presented with periodic fever, which resembled Pel-Ebstein fever of Hodgkin's lymphoma. Despite scores of diagnostic evaluations, origin of the fever remained obscure. On positron emission tomography/computed tomography scan, focal hot uptakes were seen in the mediastinum and mediastinoscopic biopsy showed many acid-fast bacilli with chronic granulomatous inflammation and necrosis. After a week of anti-tuberculosis medication, the patient remained afebrile without recourse to antipyretics.

A case of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome / 소아과

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome is one of the causes of periodic fever in pediatrics with unknown etiology. It is characterized by abrupt onset of fever, malaise, aphthous stomatitis, pharyngitis and cervical adenitis without long-term sequelae. Laboratory findings of this sporadic and nonhereditary syndrome are so non-specific that the diagnosis is based on clinical findings. Oral prednisolone is quite effective in controlling the symptoms. We report a case of a 6-year-old girl who was diagnosed as having PFAPA syndrome after 2 years of episodes, by excluding other disease entities with similar clinical features. The patient was treated with oral prednisolone and her symptoms improved dramatically.

A Case of PFAPA Syndrome Mimicking Cyclic Vomiting Syndrome / 대한소아소화기영양학회지

PFAPA syndrome is characterized by periodic fevers associated with aphthous stomatitis, pharyngitis, and cervical adenitis and is unusual in infants and children. We report on a case of PFAPA syndrome mimicking cyclic vomiting syndrome in a 42-month-old girl. She had experienced multiple episodes of cyclic vomiting with abdominal pain from age 20 to 30 months. When she was 30 months old, periodic fever with pharyngitis was combined with cyclic vomiting, and when 40 months old, aphthous stomatitis and cervical adenitis were added. These periodic symptoms and signs were not treated with prokinetics or antibiotics. Symptom duration of an episode was 3 days. After cimetidine therapy (150 mg three times daily for 6 months), her febrile and cyclic vomiting episodes ceased. At the time of writing she had not received therapy for 10 months and has remained well without periodic attack.