RESUMO
OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. STUDY DESIGN: A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. RESULTS: The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. CONCLUSIONS: Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.
Assuntos
Anormalidades Múltiplas/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Síndrome de DiGeorge/diagnóstico , Progressão da Doença , Monitorização Fisiológica/métodos , Anormalidades Múltiplas/epidemiologia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Cromossomos Humanos Par 22/genética , Diagnóstico Tardio , Deficiências do Desenvolvimento/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Diagnóstico Precoce , Feminino , Seguimentos , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fatores de Tempo , Adulto JovemAssuntos
Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge , Aconselhamento Genético/normas , Técnicas Genéticas/normas , Guias de Prática Clínica como Assunto , Criança , Deleção Cromossômica , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Humanos , MasculinoRESUMO
OBJECTIVE: To verify the prevalence of morpho-volumetric and functional thyroid abnormalities in young patients with Williams syndrome (WS). STUDY DESIGN: Ninety-two patients with WS (49 boys and 43 girls, 0.2-17.2 years of age) underwent evaluation of thyroid function by means of thyroid-stimulating hormone (TSH), fT3, and fT4 measurement. Thyroid ultrasonography was performed in 37 patients. Thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in all patients with abnormal thyroid function tests. RESULTS: None of our patients had overt hypothyroidism; 29 patients (31.5%) had subclinical hypothyroidism. Thyroid antibodies were absent in all patients. The prevalence of patients with subclinical hypothyroidism was significantly higher in the younger patients. Ultrasonography revealed morphological or volumetric abnormalities of the thyroid gland in 67.5% of patients; these abnormalities were more frequently observed in the older children. CONCLUSIONS: Subclinical hypothyroidism is a frequent but stable finding in young children with WS. The great majority of patients with WS >10 years, either with normal or hypoplastic thyroid, have normal thyroid function. Therefore, we suggest yearly monitoring of thyroid function and sonographic studies at least once in patients with WS. Treatment should be reserved for the patients with overt hypothyroidism or for those whose thyroid function shows signs of progressive deterioration.
Assuntos
Hipotireoidismo/etiologia , Glândula Tireoide/diagnóstico por imagem , Tireotropina/sangue , Síndrome de Williams/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/diagnóstico por imagem , Técnicas Imunoenzimáticas , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Ultrassonografia , Síndrome de Williams/sangue , Síndrome de Williams/complicaçõesRESUMO
Oxidative stress has been proposed as a pathogenic mechanism of atherosclerosis, cell aging, and neurologic disorders in Down syndrome. This study demonstrates a systemic decrease of all glutathione forms, including glutathionyl-hemoglobin, in the blood of children with Down syndrome. Furthermore, we obtained a disequilibrium, in vivo, between the antioxidant enzyme activities.
Assuntos
Síndrome de Down/metabolismo , Glutationa Redutase/metabolismo , Glutationa Transferase/metabolismo , Glutationa/metabolismo , Superóxido Dismutase/metabolismo , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Síndrome de Down/enzimologia , Feminino , Humanos , Masculino , Espécies Reativas de Oxigênio/metabolismoRESUMO
Se describe una niña que presenta las características del síndrome de Nager, que consisten principalmente en una disostosis mandibulofacial con anomalías radiales. La mayoría de los casos son esporádicos pero hay evindencias que sugieren herencia monogénica. El diagnóstico prenatal ecográfico puede ser útil.