Disorders of mineralocorticoid synthesis

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 15, Issue 1, 2001, Pages 43-60

  Connell, John M C ^a   Fraser, Robert ^a   Davies, Eleanor ^a  

^a WESTERN INFIRMARY   (United Kingdom)

Author keywords

Aldosterone; DOC; Genetic abnormalities of steroidogenesis; Primary aldosteronism; Steroid receptors; Steroids in essential hypertension

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ALDOSTERONE; CORTICOSTEROID; CORTISONE; DEOXYCORTICOSTERONE; GLUCOCORTICOID RECEPTOR; HYDROCORTISONE; MINERALOCORTICOID; POTASSIUM ION; PROTON; SODIUM CHANNEL; SODIUM ION; STEROID 11BETA MONOOXYGENASE; STEROID 17ALPHA MONOOXYGENASE;

ADDISON DISEASE; BLOOD PRESSURE REGULATION; CORTICOSTEROID METABOLISM; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISORDERS OF HORMONE METABOLISM; ELECTROLYTE BALANCE; ELECTROLYTE TRANSPORT; FLUID BALANCE; HORMONE DEFICIENCY; HORMONE SYNTHESIS; HUMAN; HYPERTENSION; INHERITANCE; LIDDLE SYNDROME; MOLECULAR BIOLOGY; PRIMARY HYPERALDOSTERONISM; REGULATORY MECHANISM; REVIEW; STEROIDOGENESIS;

EID: 0034976779     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1053/beem.2000.0118     Document Type: Article

References (80)

1. Inborn errors of corticosteroid biosynthesis and metabolism: Their effects on electrolyte metabolism
2. Disorders of 11β-hydroxylase isoenzymes
3. Sensitization of the adrenal cortex to angiotensin II in sodium-deplete man
4. Reciprocal influence of salt intake on adrenal glomerulosa and renal vascular responses to angiotensin II in normal man
5. Aldosterone
6. Blood pressure and metabolic effects of cortisol and deoxycorticosterone in man
7. Mineralocorticoid-induced blood pressure, electrolyte and hormone changes and reversal with spironolactone
8. Specific, nongenomic actions of steroid hormones
9. Biological determinants of aldosterone-induced cardiac fibrosis in rats
10. The role of vascular steroid receptors in the control of vascular contractility and peripheral vascular resistance
11. Central hypertensive effects of aldosterone
12. Steroids, hypertension and cardiac fibrosis
13. Glucocorticoid and mineralocorticoid receptors: Biological and clinical relevance
14. Aldosterone-induced increase in the abundance of sodium channel subunits
15. Aldosterone regulation of sodium and potassium transport in the cortical collecting duct
16. The role of the anteroventral third ventricle (AV3V) region in experimental hypertension
17. The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme
18. Cloning of cDNA and genomic DNA for human cytochrome P450-11b
19. Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily
20. Association between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass and function
21. Expression of 11β-hydroxylase and aldosterone synthase in the rat brain
22. Aldosterone and the heart: Towards a physiological function?
23. The expression of steroidogenic enzyme genes in human vascular cells
24. Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17α-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III
25. Adrenal complications of HIV infection
26. Recurrent hyperkalaemia due to selective aldosterone deficiency: Correction by angiotensin infusion
27. Plasma 18-hydroxycorticosterone and aldosterone responses to angiotensin II and corticotropin in diabetic patients with hyporeninemic and normoreninemic hypoaldosteronism
28. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone
29. Gene conversion in the CYP11B2 gene encoding P45011AS is associated with but does not cause the syndrome of corticosterone methyl oxidase II deficiency
30. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene
31. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
32. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
33. Primary aldosteronism, a new clinical syndrome
34. Aldosterone and its stimuli in normal and hypertensive man: Are essential hypertension and primary hyperaldosteronism without tumour the same condition?
35. Primary hyperaldosteronism: Conn's syndrome and similar disorders
36. Primary aldosteronism. Part I Diagnosis of primary hyperaldosteronism
37. Primary aldosteronism. Part II Differential diagnosis of primary hyperaldosteronism and pseudoaldosteronism
38. Primary aldosteronism and other forms of mineralocorticoid hypertension
39. Familial hyperaldosteronism type II: Five families with a new variety of primary aldosteronism
40. Primary aldosteronism - Some genetic, morphological and biological aspects of subtypes
41. Cellular origin of aldosteronomas
42. CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism
43. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene
44. A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
45. Rapid diagnosis of glucocorticoid-suppressible hyperaldosteronism in infants and adolescents
46. Clinical and pathological diversity of primary aldosteronism including a new familial variety
47. Glucocorticoid-suppressible hyperaldosteronism: Effects of crossover site and parental origin of chimaeric gene on phenotypic expression
48. Variation of phenotype in patients with glucocorticoid remediable aldosteronism
49. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism
50. Syndromes of glucocorticoid resistance
51. Hypermineralocorticoidism due to adrenal carcinoma: Plasma corticosteroids and their response to ACTH and angiotensin II
52. Absence of steroidogenic defects in heterozygote individuals for classic 11β-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene
53. A mutation in CYP11B1 (Arg448 → His) associated with steroid 11β-hydroxylase deficiency in Jews of Morocco
54. Unequal crossing-over between CYP11B1 and CYP11B2 genes causing 11β-hydroxylase deficiency (CAH)
55. C17 (steroid 17α-hydroxylase/17,20-lyase) to human chromosome 10
56. 17-Hydroxylation deficiency in man
57. Compound heterogenous mutations (Arg239-stop, Pro342Thr) in the CYP17 (P450-17α) gene lead to ambiguous genitalia in a male patient with partial combined 17α-hydroxylase/17,20-lyase deficiency
58. Role of mineralocorticoids in essential hyperaldosteronism
59. Relation of body sodium, body potassium and plasma potassium with arterial pressure in essential hypertension
60. Abnormal adrenal and renal responses to angiotensin II in essential hypertension
61. Partial deficiency of adrenal 11β-hydroxylase. A possible cause of primary hypertension
62. Potentially high prevalence of primary aldosteronism in a primary-care population
63. The myth of idiopathic hyperaldosteronism
64. Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements
65. Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with raised aldosterone to renin ratio
66. Genetic variation in P450c11AS in Chilean patients with low renin hypertension
67. Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P-450(C18) gene (CYP11B2) in CMO II deficient patients
68. CMOI deficiency caused by a point mutation in exon 8 of the human gene CYP11B2 encoding steroid 18-hydroxylase (P450(C18))
69. Mutation The185IIe is associated with corticosterone methyl oxidase deficiency type II
70. Amino acid substitution R384P in aldosterone synthase causes corticosterone methyl oxidase type I deficiency
71. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency
72. Congenitally defective aldosterone biosynthesis in humans: Inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMOI deficient patients
73. Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyloxidase II deficiency
74. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7 and 8
75. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
76. A nonsense mutation (TGG[Trp116] → TAG[stop]) in CYP11B1! causes 11β-hydroxylase deficiency
77. Steroid 11β-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene
78. Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene
79. Frame shift by insertion of 2 base pairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency
80. Classic steroid 11β-hydroxylase deficiency caused by a C → G transversion in exon 7