Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders

OBJECTIVES: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyperfunctioning adrenal disorders. METHOD: We retrospectively evaluated the long-term results of nine patients treated with computed tomography-guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macronodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment. Eleven sessions were performed for the nine patients. The patient data were reviewed for the clinical outcome and procedure-related complications over ten years. RESULTS: Patients with aldosterone-producing adenoma had clinical improvement: symptoms recurred in one case 96 months after ethanol ablation, and the other patient was still in remission 110 months later. All patients with pheochromocytoma had clinical improvement but were eventually submitted to surgery for complete remission. No significant clinical improvement was seen in patients with hypercortisolism due to primary macronodular adrenal hyperplasia or Cushing disease. Major complications were seen in five of the eleven procedures and included cardiovascular instability and myocardial infarction. Minor complications attributed to sedation were seen in two patients. CONCLUSION: Computed tomography-guided ethanol ablation does not appear to be suitable for the long-term treatment of hyperfunctioning adrenal disorders and is not without risks.

Basic evaluation of the immunocompetence of Brazilian patients with Kabuki syndrome

Kabuki syndrome is a genetic disorder of unknown etiology associated with characteristic features (long palpebral fissures, everted lower lids, and arched eyebrows), mental retardation, congenital malformations and increased susceptibility to infections, cancer and autoimmune diseases. However, few studies concerning the immunological aspects of the disease have been performed, and no clear cause of immunodeficiency has been established. Methods: Basic immunological evaluation of nine Brazilian children and adolescents with Kabuki syndrome was performed. Results: Clinical findings include recurrent respiratory infections (mainly otitis media and pneumonia) in 8 patients and allergic respiratory and/ or cutaneous diseases in 5 children. Laboratory findings include selective IgA deficiency, mildly decreased total IgG levels, decreased IgG2 and lack of an adequate response to delayed skin hypersensitivity testing. All of the patients seroconverted after vaccination with heptavalent conjugate pneumococcal vaccine. In two children, clinical and cytogenetic diagnosis of Turner syndrome was also established, while one of them also presented selective IgA deficiency. Conclusion: Due to these findings, we believe that further research is needed for a better understanding of the underlying causes of immunodeficiency in Kabuki syndrome...

A síndrome de Kabuki é uma condição genética de etiologia desconhecida caracterizada por retardo mental, baixa estatura, malformações congênitas, fáscies característico (fissuras palpebrais longas, eversão das pálpebras inferiores e supercílios arqueados) e uma susceptibilidade aumentada a infecções, doenças autoimunes e neoplasias. No entanto, há poucos estudos disponíveis sobre os aspectos imunológicos desta síndrome e até o momento não se estabeleceu causa para essa imunodeficiência. Método: Foi realizada uma avaliação imunológica básica de nove crianças e adolescentes brasileiros com síndrome de Kabuki. Resultados: Os achados clínicos incluíram infecções respiratórias recorrentes (principalmente otite média e pneumonia) em 8 dos pacientes e atopia (dermatite, rinite ou asma) em 5 crianças. Dentre os achados laboratoriais, pode-se citar deficiência seletiva de IgA, níveis reduzidos de IgG, redução de IgG2 e ausência de resposta aos testes cutâneos de hipersensibilidade tardia. Todos os pacientes soroconverteram após imunização com vacina pneumocócica conjugada heptavalente. Dois dos pacientes tiveram ainda o diagnóstico clínico e citogenético de síndrome de Turner, sendo que um deles também apresentava deficiência seletiva de IgA. Conclusão: Devido a estes achados, acreditamos que mais estudos devem ser realizados para que se tenha uma melhor compreensão das causas de imunodeficiência na síndrome de Kabuki...