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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
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2022
Mengzi Chen, Xi Lv, Jiwu Li, Manli Guo, Shaogang Ma
Hypertension is a major risk factor in chronic diseases and contributes to cardiovascular disease. Primary hypertension accounts for approximately 85% of diagnosed cases and approximately 15% of hypertension occurs secondary to other causes [1]. Hypertension arises via numerous causative factors; while genetic factors are difficult to detect, this is called monogenic hereditary hypertension. Monogenic hereditary hypertension can be divided into two categories: one is abnormal activation of mineralocorticoid receptors by affecting the synthesis of steroid hormones, which dysregulates sodium transport, such as congenital adrenal hyperplasia. The other category is the activation of sodium ion transport channels through direct action, resulting in increased sodium reabsorption and resulting in increased blood pressure, such as Gordon syndrome and Liddle syndrome (LS) [2,3].
Adolescent ovarian thecoma presenting as progressive hyperandrogenism: case report and review of the literature
Published in Gynecological Endocrinology, 2020
Laura Gaspari, Françoise Paris, Patrice Taourel, Marie-Odile Soyer-Gobillard, Nicolas Kalfa, Charles Sultan
Regarding pathophysiology, evidence suggests that ovarian thecoma has a genetic background: trisomy for chromosome 12 was reported in several ovarian thecomas [31]. Also, germline mutations in PTCH1 are responsible for Gordon syndrome, a rare autosomal dominant disorder characterized by developmental abnormalities, including ovarian thecoma [32]. The same group reported loss of heterozygosity in benign ovarian tumors and methylation of PTCH1 promotors. Loss of 19p13.3 (coding for TR11) and 9q22.3 also occurs in sporadic cases of thecoma and may be involved in their pathogenesis [33]. Imbalances of chromosomes 4, 9 and 12 have also been reported in some cases of thecoma [34]. No cytogenetic abnormalities were identified in our patient.
An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report
Published in Paediatrics and International Child Health, 2018
Marieke De Clerck, Johan Vande Walle, Evelyn Dhont, Joke Dehoorne, Werner Keenswijk
Pseudohypoaldosteronism is a rare heterogeneous syndrome characterised by systemic or renal tubular unresponsiveness to aldosterone characterised by hyponatraemia, hyperkalaemia and metabolic acidosis [4]. It has been classified into two distinct forms, namely the primarily salt-losing syndromes PHA type 1 (subdivided into primary and secondary or transient forms) and the potassium-retaining syndrome PHA type 2 (also known as familial hyperkalaemic hypertension) [6]. Primary PHA1 is characterised by mutations in the ENaC genes (encoding subunits of the epithelial sodium channel, ENaC) and MR genes (encoding the adrenal mineralocorticoid receptor), leading to systemic or renal resistance to aldosterone [6]. PHA1 is the most severe form, characterised by systemic salt-wasting associated with high plasma aldosterone and renin levels. The renal form is less severe as salt-wasting is restricted to the kidneys. Both types present with hyponatremia, life-threatening hyperkalaemia, metabolic acidosis, dehydration and failure to thrive in the neonatal period [6,7]. Pseudohypoaldosteronism type 2 (PHA type 2 or Gordon syndrome) is characterised by hyperkalaemia and hypertension with variable levels of plasma aldosterone combined with suppressed renin activity [6–8]. TPHA, a recognised but rare clinical entity, is most frequently associated with UTA and/or UTI which may induce tubular resistance to aldosterone in neonates and young infants [4,9–11]. However, the exact pathogenesis of TPHA is not completely understood and there is controversy regarding the role of microbial infection versus urine tract anomalies (UTA) as the underlying cause of mineralocorticoid resistance [4].