Hyperaldosteronism causes: Difference between revisions
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==Causes== | ==Causes== | ||
21-hydroxylase deficiency is an autosomal recessive and monogenetic disease due to mutations in | |||
CYP21A gene which on chromosome six. This gene consists of a gene called CYP21A2 and its pseudogene CYP21A1. | |||
** Approximately 70% of CYP21A2 disease is due to gene conversion and micro-deletions in CYP21A1 gen. | |||
** Approximately 25% to 30% are chimeric genes due to large deletions. | |||
** Approximately 1% to 2% of cases are due to de novo mutations because of high variability of the CYP21A2 locus. | |||
** Chromosome 6 uniparental disomy is rare cause of 21-hydroxylase deficiency with an unknown prevalence. | |||
* Gene mutations that completely inactivate CYP21A2 gene will result in the classical type and salt-wasting subtype. | |||
* Gene mutations that maintain 1–2% of 21-hydroxylase activity will result in classical type and non-saltwasting suntype. These patients have minimal aldosterone production that prevents a neonatal crisis.<ref name="pmid20926536">{{cite journal |vauthors=Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP |title=Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=E161–72 |year=2011 |pmid=20926536 |pmc=3038490 |doi=10.1210/jc.2010-0319 |url=}}</ref><ref name="pmid23359698">{{cite journal |vauthors=New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T |title=Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=110 |issue=7 |pages=2611–6 |year=2013 |pmid=23359698 |pmc=3574953 |doi=10.1073/pnas.1300057110 |url=}}</ref><ref name="pmid20926536">{{cite journal |vauthors=Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP |title=Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=E161–72 |year=2011 |pmid=20926536 |pmc=3038490 |doi=10.1210/jc.2010-0319 |url=}}</ref><ref name="pmid3487786">{{cite journal |vauthors=White PC, New MI, Dupont B |title=Structure of human steroid 21-hydroxylase genes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue=14 |pages=5111–5 |year=1986 |pmid=3487786 |pmc=323900 |doi= |url=}}</ref><ref name="pmid2831244">{{cite journal |vauthors=Fiet J, Gueux B, Gourmelen M, Kuttenn F, Vexiau P, Couillin P, Pham-Huu-Trung MT, Villette JM, Raux-Demay MC, Galons H |title=Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia |journal=J. Clin. Endocrinol. Metab. |volume=66 |issue=4 |pages=659–67 |year=1988 |pmid=2831244 |doi=10.1210/jcem-66-4-659 |url=}}</ref> | |||
===Causes by Organ System=== | ===Causes by Organ System=== | ||
Revision as of 16:59, 12 July 2017
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Overview
Causes
21-hydroxylase deficiency is an autosomal recessive and monogenetic disease due to mutations in CYP21A gene which on chromosome six. This gene consists of a gene called CYP21A2 and its pseudogene CYP21A1.
- Approximately 70% of CYP21A2 disease is due to gene conversion and micro-deletions in CYP21A1 gen.
- Approximately 25% to 30% are chimeric genes due to large deletions.
- Approximately 1% to 2% of cases are due to de novo mutations because of high variability of the CYP21A2 locus.
- Chromosome 6 uniparental disomy is rare cause of 21-hydroxylase deficiency with an unknown prevalence.
- Gene mutations that completely inactivate CYP21A2 gene will result in the classical type and salt-wasting subtype.
- Gene mutations that maintain 1–2% of 21-hydroxylase activity will result in classical type and non-saltwasting suntype. These patients have minimal aldosterone production that prevents a neonatal crisis.[1][2][1][3][4]
Causes by Organ System
Cardiovascular |
No underlying causes |
Chemical / poisoning | No underlying causes |
Dermatologic | No underlying causes |
Drug Side Effect | No underlying causes |
Ear Nose Throat | No underlying causes |
Endocrine | No underlying causes |
Environmental | No underlying causes |
Gastroenterologic | No underlying causes |
Genetic | No underlying causes |
Hematologic | No underlying causes |
Iatrogenic | No underlying causes |
Infectious Disease | No underlying causes |
Musculoskeletal / Ortho | No underlying causes |
Neurologic | No underlying causes |
Nutritional / Metabolic | No underlying causes |
Obstetric/Gynecologic | No underlying causes |
Oncologic | No underlying causes |
Opthalmologic | No underlying causes |
Overdose / Toxicity | No underlying causes |
Psychiatric | No underlying causes |
Pulmonary | No underlying causes |
Renal / Electrolyte | No underlying causes |
Rheum / Immune / Allergy | No underlying causes |
Sexual | No underlying causes |
Trauma | No underlying causes |
Urologic | No underlying causes |
Miscellaneous | No underlying causes |
References
- ↑ 1.0 1.1 Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP (2011). "Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 96 (1): E161–72. doi:10.1210/jc.2010-0319. PMC 3038490. PMID 20926536.
- ↑ New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T (2013). "Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency". Proc. Natl. Acad. Sci. U.S.A. 110 (7): 2611–6. doi:10.1073/pnas.1300057110. PMC 3574953. PMID 23359698.
- ↑ White PC, New MI, Dupont B (1986). "Structure of human steroid 21-hydroxylase genes". Proc. Natl. Acad. Sci. U.S.A. 83 (14): 5111–5. PMC 323900. PMID 3487786.
- ↑ Fiet J, Gueux B, Gourmelen M, Kuttenn F, Vexiau P, Couillin P, Pham-Huu-Trung MT, Villette JM, Raux-Demay MC, Galons H (1988). "Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia". J. Clin. Endocrinol. Metab. 66 (4): 659–67. doi:10.1210/jcem-66-4-659. PMID 2831244.