Variation of phenotype in patients with glucocorticoid remediable aldosteronism.

نویسندگان

  • L J Gates
  • A A MacConnachie
  • R P Lifton
  • N E Haites
  • N Benjamin
چکیده

Glucocorticoid remediable aldosteronism (GRA), an autosomal dominant cause of primary aldosteronism, has been described as resulting in severe hypertension with premature death from stroke. We describe two new large pedigrees which include subjects who have the abnormal chimaeric gene strongly linked to GRA. The majority of affected members, who have only mild hypertension and normal biochemistry, are clinically indistinguishable from patients with essential hypertension. It is therefore likely that this condition is underdiagnosed.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Glucocorticoid‐remediable aldosteronism in a young adult with a family history of Conn's syndrome

Glucocorticoid-remediable aldosteronism is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. We present the case of a 24-year-old man with a family history of Conn's syndrome. Yet, in the index patient, classical characteristics of mineralocorticoid excess could be reversed by exogenous glucocorticoids.

متن کامل

Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism.

Patients with glucocorticoid-remediable aldosteronism (GRA) possess a chimeric gene resulting from fusion of the genes encoding steroid aldosterone synthase and 11 beta-hydroxylase. In the adrenal zona fasciculata, this may lead to ectopic expression under ACTH control of aldosterone synthase activity and increased formation of cortisol C18 oxidation products. We assessed mineralocorticoid and ...

متن کامل

Serum 18-hydroxycortisol in primary aldosteronism, hypertension, and normotensives.

This study reports the determination of plasma 18-hydroxycortisol (18-OHF) using a new and easy enzyme-linked immunosorbent assay (ELISA) method in primary aldosteronism and compares the values found in essential hypertensives and normotensive controls. In primary aldosteronism, we evaluated usefulness of plasma 18-OHF determination and the dexamethasone suppression test in the diagnosis of glu...

متن کامل

A Case of Glucocorticoid Remediable Aldosteronism and Thoracoabdominal Aneurysms

Glucocorticoid remediable aldosteronism (GRA) is rare familial form of primary aldosteronism characterized by a normalization of hypertension with the administration of glucocorticoids. We present a case of GRA and thoracoabdominal aneurysm complicated by multiple aortic dissections requiring complex surgical and endovascular repairs. Registry studies have shown a high rate of intracranial aneu...

متن کامل

Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism.

There are anecdotal reports of early cerebrovascular complications occurring in patients with glucocorticoid-remediable aldosteronism (GRA). The issue has never been systematically evaluated. In this study, we retrospectively reviewed the International Registry for GRA to see if there was an association between cerebrovascular complications and GRA. We searched the records of 376 patients from ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 33 1  شماره 

صفحات  -

تاریخ انتشار 1996