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Quoted phrase not found in phrase index: "Hyperaldosteronism, familial, type IV"
Page 1
Familial hyperaldosteronism type III.
Monticone S, Tetti M, Burrello J, Buffolo F, De Giovanni R, Veglio F, Williams TA, Mulatero P. Monticone S, et al. J Hum Hypertens. 2017 Dec;31(12):776-781. doi: 10.1038/jhh.2017.34. Epub 2017 Apr 27. J Hum Hypertens. 2017. PMID: 28447626 Review.
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. ...These mutations alter the selectivity filte …
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Fo …
Timeline of Advances in Genetics of Primary Aldosteronism.
Meyer LS, Reincke M, Williams TA. Meyer LS, et al. Exp Suppl. 2019;111:213-243. doi: 10.1007/978-3-030-25905-1_11. Exp Suppl. 2019. PMID: 31588534 Review.
The overwhelming majority of cases of primary aldosteronism (PA) occur sporadically due to a unilateral aldosterone-producing adenoma (APA) or bilateral idiopathic adrenal hyperplasia. Familial forms of PA are rare with four subtypes defined to date (familial hyp …
The overwhelming majority of cases of primary aldosteronism (PA) occur sporadically due to a unilateral aldosterone-producing adenoma (APA) …
DIAGNOSIS OF ENDOCRINE DISEASE: 18-Oxocortisol and 18-hydroxycortisol: is there clinical utility of these steroids?
Lenders JWM, Williams TA, Reincke M, Gomez-Sanchez CE. Lenders JWM, et al. Eur J Endocrinol. 2018 Jan;178(1):R1-R9. doi: 10.1530/EJE-17-0563. Epub 2017 Sep 13. Eur J Endocrinol. 2018. PMID: 28904009 Free PMC article. Review.
The major physiological regulator is ACTH and the biological activity of both steroids is very low and therefore only very high concentrations might be effective in vivo In healthy subjects, the secretion of both steroids is low with 18-hydroxycortisol being substantially higher …
The major physiological regulator is ACTH and the biological activity of both steroids is very low and therefore only very high concentratio …
Somatic and inherited mutations in primary aldosteronism.
Fernandes-Rosa FL, Boulkroun S, Zennaro MC. Fernandes-Rosa FL, et al. J Mol Endocrinol. 2017 Jul;59(1):R47-R63. doi: 10.1530/JME-17-0035. Epub 2017 Apr 11. J Mol Endocrinol. 2017. PMID: 28400483 Review.
Germline mutations identified in patients with early-onset PA have expanded the classification of familial forms (FH) of PA. The description of germline KCNJ5 and CACNA1H mutations has identified FH-III and FH-IV based on genetic findings; germline CACNA1D mutations …
Germline mutations identified in patients with early-onset PA have expanded the classification of familial forms (FH) of PA. The desc …
Recent Developments in Primary Aldosteronism.
Asbach E, Williams TA, Reincke M. Asbach E, et al. Exp Clin Endocrinol Diabetes. 2016 Jun;124(6):335-41. doi: 10.1055/s-0042-105278. Epub 2016 May 24. Exp Clin Endocrinol Diabetes. 2016. PMID: 27219889 Review.
Sporadic forms of PA caused mainly by an aldosterone producing adenoma (APA) or idiopathic adrenal hyperplasia (IAH) predominate; in contrast, familial forms (familial hyperaldosteronism types I, II and III) affect only a minor proportion of PA patients. ...S …
Sporadic forms of PA caused mainly by an aldosterone producing adenoma (APA) or idiopathic adrenal hyperplasia (IAH) predominate; in contras …
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.
Zennaro MC, Jeunemaitre X. Zennaro MC, et al. Ann Endocrinol (Paris). 2016 Jul;77(3):214-9. doi: 10.1016/j.ando.2016.02.006. Epub 2016 Jun 15. Ann Endocrinol (Paris). 2016. PMID: 27315758
While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: familial hyperaldosteronism (FH) types I to IV. FH-I, also called glucocorticoid-remediable aldosteronism, is characteriz …
While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: …
Pattern of hereditary renal tubular disorders in Egyptian children.
M-Osman MA, B-Abd-Elrehim GA, Abdelkreem E, Abosdera MM, Kassem MA. M-Osman MA, et al. Turk J Pediatr. 2023;65(4):611-619. doi: 10.24953/turkjped.2022.688. Turk J Pediatr. 2023. PMID: 37661676 Free article.
RESULTS: Fifty-eight children (57% males; 72% parental consanguinity; 60% positive family history) were diagnosed with seven HRTD types. The most commonly encountered disorders were distal renal tubular acidosis (distal renal tubular acidosis [RTA] 27 cases, 46.6%) and Bar …
RESULTS: Fifty-eight children (57% males; 72% parental consanguinity; 60% positive family history) were diagnosed with seven HRTD typ …