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The cardiovascular system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Mary N Sheppard, C. Simon Herrington
In 95% of cases of hypertension there is no detectable cause; such patients are said to have primary or essential hypertension. In the remaining cases, hypertension is secondary to an underlying condition, often renal disease, alcohol misuse, or, occasionally, an endocrine disorder (Table 7.3). Hypertension is a key feature of some rare genetic disorders, including familial hyperaldosteronism, pseudohypoaldosteronism type 2, Liddle syndrome, Bartter syndrome, Gitelman syndrome, and tumours known as paragangliomas.
Diagnosis, Management, and Treatment of Systemic Hypertension in Youth, Updates from the 2017 American Academy of Pediatrics Clinical Practice Guideline
Published in James M. Rippe, Lifestyle Medicine, 2019
Carissa M. Baker-Smith, Samuel Gidding
Monogenic forms of HTN are uncommon, although the exact incidence is unknown. Monogenic forms of HTN should be suspected in hypertensive children with a suppressed plasma renin activity (PRA) or elevated aldosterone-to-renin ratio (ARR), especially if there is a family history of early-onset HTN. Potential monogenic forms of hypertension include familial hyperaldosteronism type I (FH-I), glucocorticoid remediable aldosteronism, Liddle syndrome, pseudohypoaldosteronism type II (Gordon syndrome), apparent mineralocorticoid excess, familial glucocorticoid resistance, mineralocorticoid receptor activating mutation, and congenital adrenal hyperplasia.44 All manifest as HTN with suppressed PRA and increased sodium absorption in the distal tubule. Other features may include serum potassium abnormalities, metabolic acid-base disturbances, and abnormal plasma aldosterone concentrations. Clinical presentations of the monogenic forms of hypertension can be highly variable.45–47
Primary aldosteronism
Published in Demetrius Pertsemlidis, William B. Inabnet III, Michel Gagner, Endocrine Surgery, 2017
Mihail Zilbermint, Constantine A. Stratakis
Primary aldosteronism (PA) describes a number of conditions, all characterized by excess production of aldosterone. Dr. Jerome Conn described the phenomenon of hypertension and hypokalemia in the 1950s, improving after resection of an adrenocortical adenoma [1]. He suggested that this clinical picture was due to overproduction of aldosterone by the adrenal adenoma. Today, this constellation of findings bears Dr. Conn’s name and is known as Conn’s syndrome. While PA is often due to an adrenal adenoma, other causes have since been identified; aldosterone-producing adrenal hyperplasia, in particular, has been recognized as a genetic disorder and is now divided into three types: familial hyperaldosteronism (FH) types I–III. Genetic causes have also been discovered in the past decade for both adenoma and hyperplasia.
Replication of a genome-wide association study on essential hypertension in Mongolians
Published in Clinical and Experimental Hypertension, 2018
Hongmei Li, Tong Wu, Shaoqing Wang, Xueyan Li, Yongqiang Qiu, Chunrong Lin, Changchun Qiu, Zhihui Deng, Li Zhou, Xiaojie Zhang
It has been consistently demonstrated that calcium acts mainly through CaMK1D activation on determining acute and chronic aldosterone secretion in the adrenal zona glomerulosa (24,25). CaMK1D can also regulate gene transcription by phosphorylating various substrates (26). Interestingly, it has been shown that increases in intracellular calcium in the zona glomerulosa of the adrenal cortex are a common pathway in the activation of CYP11B2 transcription in sporadic and familial hyperaldosteronism (27,28). The Framingham Offspring Study has unraveled the central role of increased aldosterone production in the pathogenesis of EH, that is aldosterone levels were directly associated with an increase in BP and the development of hypertension, independent of sodium intake and other potential confounding factors (29). Moreover, it has been shown that CAMK1D gene was associated with BP response to antihypertensive losartan (30). SNP rs12779790 located between CAMK1D and cell division cycle 123 homolog (CDC123) genes was associated with cerebrovascular disease (31). All these findings demonstrate that CAMK1D gene is associated with EH or BP variation.
Prevalence of primary aldosteronism without hypertension in the general population: Results in Shika study
Published in Clinical and Experimental Hypertension, 2018
Shigehiro Karashima, Mitsuhiro Kometani, Hiromasa Tsujiguchi, Hiroki Asakura, Shigeru Nakano, Mikiya Usukura, Shunsuke Mori, Masashi Ohe, Toshitaka Sawamura, Rika Okuda, Akinori Hara, Toshinari Takamura, Masakazu Yamagishi, Hiroyuki Nakamura, Yoshiyu Takeda, Takashi Yoneda
Brooks et al. (23) first described normotensive PA in 1972, and about additional 40 cases of normotensive PA have been reported up to now (24, 25). An aldosterone-producing adenoma (APA) was found in 20 patients, idiopathic hyperaldosteronism (IHA) in seven patients, adrenocortical carcinoma in two patients, and one patient had familial hyperaldosteronism type I (FH-I), with the remaining 13 of unknown subtypes. Most of them were accompanied by hypokalemia and adrenal masses. But it was not concluded that most of subjects with normotensive PA have hypokalemia and adrenal mass, because the symptom such as hypokalemia or adrenal mass was considered the opportunity to measure PAC, PRA, and ARR in normotensive subjects.
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.