RESUMO
BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood. The JIA-associated uveitis represents the most common extra-articular manifestation. OBJECTIVES: The main aim of this study was to evaluate frequency and risk factors of uveitis in a pediatric population affected by JIA. METHODS: One hundred eight Italian children with JIA were followed during a follow-up period of 13 years. Association between uveitis, antinuclear antibodies (ANAs), and subtype of arthritis has been estimated, and Kaplan-Meier curves were generated to assess the probability of ocular complications during the follow-up period. RESULTS: Twenty-one patients developed uveitis, after 96.5 ± 50.4 months from the enrollment. According to JIA subtypes, the oligoarthritis subtype was characterized by the highest prevalence (39%) of uveitis. The greatest risk of uveitis has been detected in oligoarthritis patients associated to ANA positivity (risk ratio, 8.6; 95% confidence interval, 2.27-32.9; χ = 20.4), whereas the worst evolution was revealed in patients with oligoarthritis and high levels of ANAs, with a progression time of 36 months (log-rank χ = 16.39; p < 0.0001; risk ratio, 18; 95% confidence interval, 7.3-44.2). CONCLUSIONS: Patients with early-onset ANA-positive oligoarticular JIA have the highest risk of developing uveitis. A routine ophthalmological follow-up is required at regular intervals, even though the joint disease is clinically quiescent.
Assuntos
Artrite Juvenil , Uveíte , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/epidemiologia , Criança , Seguimentos , Humanos , Itália/epidemiologia , Fatores de Risco , Uveíte/diagnóstico , Uveíte/epidemiologia , Uveíte/etiologiaRESUMO
Little is known about how the intersection of being a forced migrant and living with HIV can contribute to the development or exacerbation of pre-existing mental conditions. This study is set in this context and it aims to explore specific risk factors affecting the mental health of refugee women living with HIV. A total of eight refugee women living with HIV took part in the study; they were individually interviewed, and their transcripts were thematically analyzed. The overall findings indicated that participants' mental health was impaired by multiple stressors associated with their conditions, such as racial discrimination, HIV-related stigma, including from health professionals, loneliness, and resettlement adversities. These all represent threats to public health, as they discourage individuals from engaging with adequate health/mental health services. Despite their situation, participants had not received psychological interventions and their healthcare was reduced to managing the physical symptoms of HIV. Participants indicated their need to take part in group interventions that could promote their mental health and social recovery. These findings are relevant to raising awareness about the specific risk factors affecting refugee women living with HIV and to provide evidence for public health interventions based on this specific population's need.
Assuntos
Infecções por HIV/psicologia , Saúde Mental , Refugiados/psicologia , Adulto , Atenção à Saúde , Feminino , HIV , Pessoal de Saúde , Humanos , Serviços de Saúde Mental , Pessoa de Meia-Idade , Terapia Narrativa , Racismo , Fatores de Risco , Rede Social , Estigma Social , MigrantesRESUMO
Dense deposit disease or membranoproliferative glomerulonephritis type II is a rare glomerulopathy characterized on renal biopsy by deposition of abnormal electron-dense material in the glomerular basement membrane. The pathophysiologic basis is uncontrolled systemic activation of the alternate pathway of the complement cascade. C3 nephritic factor, an autoantibody directed against the C3 convertase of the alternate pathway, plays a key role. In some patients, complement gene mutations have been identified. We report the case of a child who had persistent microscopic hematuria, proteinuria, and hypocomplementemia C3 for over 2 months. Renal biopsy confirmed the diagnosis of dense deposit disease.
Assuntos
Complemento C3/imunologia , Febre/etiologia , Glomerulonefrite Membranoproliferativa/complicações , Glomérulos Renais/imunologia , Faringite/etiologia , Biópsia , Criança , Ativação do Complemento , Complemento C3/deficiência , Fator Nefrítico do Complemento 3/imunologia , Diagnóstico Diferencial , Imunofluorescência , Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/imunologia , Glomerulonefrite Membranoproliferativa/terapia , Humanos , Glomérulos Renais/ultraestrutura , Masculino , Microscopia Eletrônica , Valor Preditivo dos TestesRESUMO
Vitamin D (VitD) intoxication, a well-known cause of hypercalcaemia in children, has renal, cardiac and neurological consequences. Iatrogenic or accidental administrations are the most common causes. We present two cases of hypervitaminosis D due to over-the-counter VitD supplement self-medication. A 12-year-old boy was hospitalised for abdominal pain, constipation and vomiting. Routine biochemistry indicated severe hypercalcaemia and renal failure. Plasma 25-OH VitD level was very high and parathyroid hormone was suppressed. Renal ultrasound showed nephrolithiasis. Hydration, diuretics and prednisone induced a progressive reduction of calcium levels. His brother, who was receiving the same treatment, was hospitalised although asymptomatic. Normal serum calcium and renal function were revealed, while 25-OH VitD was high and parathyroid hormone was suppressed. Renal ultrasound was within the normal range. Examination of the VitD content of the over-the-counter supplement revealed a higher amount than declared. VitD administration implies several risks and must be prescribed only when needed and under strict medical control.
Assuntos
Suplementos Nutricionais/efeitos adversos , Hipercalcemia/induzido quimicamente , Vitamina D/toxicidade , Injúria Renal Aguda/induzido quimicamente , Adolescente , Criança , Humanos , Masculino , Nefrolitíase/induzido quimicamente , Hormônio Paratireóideo/sangue , Irmãos , Vitamina D/sangueRESUMO
OBJECTIVE: To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever. METHODS: 113 children carrying MEFV mutations (44 with mutations in two alleles, 69 heterozygous) and 205 children negative for mutations in genes associated with periodic fevers were analysed. The following groups of patients were considered: patients carrying two high penetrance mutations (M694V, M694I, M680I); one high, one low penetrance mutation; two low penetrance mutations; one high penetrance mutation; one low penetrance mutation; genetically negative patients. RESULTS: Patients with two MEFV mutations displayed a shorter duration of fever attacks and higher prevalence of a positive family history than patients carrying one MEFV mutation and genetically negative patients. Severe abdominal pain, chest pain and pleurisy were also more frequent in patients with two MEFV mutations compared with children with one MEFV mutation and genetically negative patients. Conversely, a higher frequency of exudative and erythematous pharyngitis, enlargement of cervical lymph nodes, aphthous stomatitis and non-specific skin rash was observed in genetically negative patients and, to a lesser extent, in patients with one MEFV mutation. The frequency of 'familial Mediterranean fever (FMF)-like symptoms' decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation with an opposite trend for 'periodic fever, aphthous stomatitis, pharyngitis, adenitis-like symptoms'. CONCLUSIONS: This clinical observation supports recent findings contrasting the notion of FMF being a pure autosomal recessive disorder associated with recurrence of mutations leading to loss of protein function. A dosage effect could be invoked, giving rise to symptom onset even in the presence of one wild-type allele.
Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/etnologia , Febre Familiar do Mediterrâneo/genética , População Branca/genética , População Branca/estatística & dados numéricos , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Éxons/genética , Feminino , Dosagem de Genes/genética , Genes Recessivos/genética , Humanos , Lactente , Masculino , Penetrância , Fenótipo , Prevalência , PirinaRESUMO
AIM: We report a case of Gitelman Syndrome (GS) in a 9-year-old girl, previously diagnosed as a Bartter syndrome at one year of life. METHODS: She had been treated with potassium, for over 8 years and was admitted because of fatigue, numbness and weakness of both legs. The patient has typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, thus GS was suspected. RESULTS: Genetic analysis was performed two mutations IVS9(+1)G>T were detected in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), thus she was diagnosed as having GS. She was treated with oral potassium and magnesium supplements with resolution of the symptoms. CONCLUSION: This case reminded us that doctors should be alert to the initial presentation of renal tubular diseases. Detailed electrolyte analysis, hormone evaluations and clinic follow-up are mandatory for their correct differential diagnosis.
Assuntos
Insuficiência de Crescimento/etiologia , Síndrome de Gitelman/diagnóstico , Hipopotassemia/fisiopatologia , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/etiologia , Síndrome de Bartter/fisiopatologia , Criança , Diagnóstico Diferencial , Feminino , Síndrome de Gitelman/complicações , Síndrome de Gitelman/etiologia , Síndrome de Gitelman/fisiopatologia , HumanosAssuntos
Nádegas/cirurgia , Calcinose/cirurgia , Dermatomiosite/complicações , Procedimentos de Cirurgia Plástica/métodos , Calcinose/tratamento farmacológico , Calcinose/etiologia , Criança , Terapia Combinada , Dermatomiosite/diagnóstico , Difosfonatos/uso terapêutico , Feminino , Seguimentos , Humanos , Metotrexato/administração & dosagem , Cuidados Pós-Operatórios/métodos , Medição de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do TratamentoAssuntos
Febre de Causa Desconhecida/etiologia , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Pneumonia/etiologia , Anti-Inflamatórios/uso terapêutico , Pré-Escolar , Conjuntivite/etiologia , Doença das Coronárias/etiologia , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Metilprednisolona/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/complicações , Derrame Pleural/etiologia , Trombocitose/etiologiaRESUMO
In developed countries, scurvey is quite rare and can be seen in children with severely restricted diets, related to psychiatric or developmental problems. Clinical presentation can include arthralgias/arthritis, myalgias, hemarthrosis, purpura and ecchymosis. We report two cases of nutritional vitamin C deficiency, who have been misdiagnosed as having rheumatologic diseases, and promptly resolved with vitamin C treatment. Both patents did not have the classic radiological features described in scurvey, such as the Wimberger ring or the white lines of Frankel. Magnetic resonance imaging clearly showed areas of hemorrhage at bony and subperiasteal level. This imaging procedure, therefore, should be recommended especially in the doubtful cases. The two patients described herein should alert pediatricians to consider scurvey although rare, as a potential source of "rheumatological" manifestations in children, especially in the industrialized countries where in appropriate vitamin intake is often underestimated.
Assuntos
Artrite Juvenil/diagnóstico , Gengiva/fisiopatologia , Hemorragia/diagnóstico , Deficiência de Ácido Ascórbico/complicações , Deficiência de Ácido Ascórbico/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Erros de Diagnóstico , Humanos , Masculino , Escorbuto/diagnóstico , Escorbuto/fisiopatologiaRESUMO
Takayasu's arteritis is a systemic vasculitis predominantly affecting the aorta and its major branches. We report a 14-year-old girl in whom incidentally a deep upper limb vein thrombosis was found. She was referred to the emergency unit due to swelling and intermittent cyanosis of the right arm following an axillary depilatory wax. High-resolution echo colour Doppler ultrasonography showed a deep vein thrombosis with thickening of the proximal common carotids. A diagnosis of type IIb Takayasu's arteritis was made. The patient's history revealed fatigue, myalgia and headache. Immunosuppressive treatment and anticoagulation were introduced with a rapid and sustained improvement.