Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

作者： Henri J. L. M. Timmers , Anna Kozupa , Graeme Eisenhofer , Margarita Raygada , Karen T. Adams

DOI: 10.1210/JC.2006-2315

关键词:

摘要: Context: Mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening. Objective: The objective study was assess mutation-specific clinical biochemical characteristics SDHB-related PGL. Design: design retrospective descriptive. Patients: Patients included 29 patients (16 males) with abdominal or thoracic Intervention: There no intervention. Main Outcome Measures: Clinical presentations, plasma urine concentrations catecholamines O-methylated metabolites, genotype-phenotype correlations were measured. Results: Mean ± sd age at diagnosis 33.7 15.7 yr. Tumor-related pain among presenting symptoms 54% sole symptom 14%. Seventy-six percent had hypertension, 90% lacked a history All primary tumors but one originated f...

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Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

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Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

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