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The Integrated Diagnostic Approach in General Medicine
Published in Giuseppe Mancia, Guido Grassi, Konstantinos P. Tsioufis, Anna F. Dominiczak, Enrico Agabiti Rosei, Manual of Hypertension of the European Society of Hypertension, 2019
Andrzej Więcek, Aleksander Prejbisz, Andrzej Januszewicz
A family history of early-onset hypertension and/or premature CV disease should be obtained, since it is an important indicator of familial predisposition to hypertension and CV disease. Few rare, monogenic forms of hypertension have been described, such as glucocorticoid-remediable aldosteronism, Liddle syndrome and others. Although essential hypertension is a highly heterogeneous disorder with a multifactorial aetiology, the heritability of hypertension has been estimated to vary between 35−50% in the majority of studies (1,3–5).
Endocrinology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Primary:1 Conn’s syndrome.2 Bilateral adrenal hyperplasia.3 Glucocorticoid-remediable aldosteronism (GRA).1
Primary aldosteronism
Published in Demetrius Pertsemlidis, William B. Inabnet III, Michel Gagner, Endocrine Surgery, 2017
Mihail Zilbermint, Constantine A. Stratakis
FH type I or GRA is a rare, mostly autosomal dominant (occasionally sporadic) disorder, causing less than 1% of PA (Table 30.1) [85]. The key finding is early onset of severe and resistant hypertension, sometimes accompanied by hemorrhagic strokes [86, 87]. The GRA can be excluded with a 4-day dexamethasone suppression test (0.5 mg administered every 6 hours). Plasma aldosterone and renin are measured at baseline, at days 2 and 4. Non-GRA patients respond with decreased levels of aldosterone by approximately 50% and return to baseline levels by day 4. In the case of GRA, aldosterone levels remain suppressed. Urinary levels of 18-hydroxycortisol (>100 nmol/L) and 18-oxocortisol may also be elevated, although sometimes this is misleading [3, 88]. Most cases of GRA are caused by a fusion of the ACTH-dependent 11β-hydroxylase gene (CYP11B1) promoter to the coding sequence of the aldosterone-producing gene (CYP11B2), allowing for ACTH to exclusively control aldosterone secretion [5–10]. Genetic testing via polymerase chain reaction techniques is widely available and should be considered the first step in the confirmatory workup of the selected population [13, 86, 87].
Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1
Published in Gynecological Endocrinology, 2019
Sabina Zacharieva, Ralitsa Robeva, Silvia Andonova, Radoslava Vazharova, Lubomir Balabanski, Maya Atanasoska, Draga Toncheva, Atanaska Elenkova, Alexey Savov
Unlike the classic CAH11β, patients with non-classic variants are rarely diagnosed and only a few women with genetically confirmed diagnosis have been described in the literature (Table 2). Clinical observations showed that the hyperandrogenism did not correlate with the degree of mineralocorticoid excess [13]. A minority of reported patients with non-classic 11β-hydroxylase deficiency complained of high-normal or increased blood pressure, and interestingly, low potassium levels were never reported in female non-classic CAH11β patients (Table 2) [4,5,7,13,14–17]. A normokalemic hypertension has been described in patients with other forms of mineralcorticoid excess, e.g. it is a usual finding associated with the glucocorticoid-remediable aldosteronism. The rapid ACTH dependent diurnal decline of aldosterone concentrations might explain the volume expansion in patients with the latter diagnosis, without a pronounced renal potassium wasting [18]. Further studies are needed to clarify the heterogeneous phenotypic manifestations of the mineralcorticoid abnormalities in CAH11β patients. However, it should be emphasized that in case of additional precipitating factors a life-threatened hypokalemia could be observed even in individuals with non-classic CAH11β [19].
Familial hyperaldosteronism type 1 and pregnancy: successful treatment with low dose dexamethasone
Published in Blood Pressure, 2021
Viola Sanga, Livia Lenzini, Teresa Maria Seccia, Gian Paolo Rossi
Familial hyperaldosteronism type 1 (FH-1), also known as glucocorticoid-remediable-aldosteronism (GRA) (OMIM: 103,900), is an autosomal dominant form of primary aldosteronism (PA) featuring a marked phenotypic heterogeneity, ranging from mild to severe forms of arterial hypertension (HT) and aldosteronism complicated by stroke, either ischaemic or haemorrhagic, at a young age.
Adrenal disorders in pregnancy, labour and postpartum – an overview
Published in Journal of Obstetrics and Gynaecology, 2020
Madhavi Manoharan, Prabha Sinha, Shabnum Sibtain
Three distinct genetic-familial varieties of primary aldosteronism have been described. The first is type 1 variety of familial primary aldosteronism, glucocorticoid-remediable aldosteronism (GRA). In GRA, small doses of glucocorticoids in addition to other antihypertensive agents is used to control hypertension (Dluhy and Lifton 1994).