eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | conn syndrome |
| Comorbidity | C1621895|adrenal hyperplasia |
| Sentences | 5 |
| PubMedID- 20540920 | Adrenal vein sampling is the gold standard for localizing aldosterone-secreting adenomas and for distinguishing adenomas from bilateral adrenal hyperplasia in patients with primary hyperaldosteronism. |
| PubMedID- 21297325 | The clinical diagnosis of subclinical cushing's syndrome due to acth-independent macronodular adrenal hyperplasia (aimah) associated with primary aldosteronism was made, and he underwent left adrenalectomy; the resected adrenal lesion was consistent with the pathological diagnosis of aimah coexistent with aldosterone-producing adenoma (apa). |
| PubMedID- 23158191 | Unilateral adrenal hyperplasia: a novel cause of surgically correctable primary hyperaldosteronism. |
| PubMedID- 22275527 | Kcnj5 sequencing was performed on somatic (apa, n=380) and peripheral (apa, n=344; bilateral adrenal hyperplasia, n=174) dna of patients with primary aldosteronism, collected through the european network for the study of adrenal tumors. |
| PubMedID- 22308486 | These findings demonstrate striking variations in phenotypes and clinical outcome resulting from different mutations of the same amino acid in kcnj5 and have implications for the diagnosis and pathogenesis of primary aldosteronism with and without adrenal hyperplasia. |
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