Juvenile hypertension, the role of genetically altered steroid metabolism

Hormone Research

Volumn 55, Issue 5, 2001, Pages 213-223

  Ferrari, Paolo ^a   Bianchetti, Mario ^a   Frey, Felix J ^a  

^a UNIVERSITY OF BERN   (Switzerland)

Author keywords

Adolescents; Children; Genetics; Glucocorticoids; Hypertension; Mineralocorticoids; Steroids

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; 11BETA HYDROXYSTEROID DEHYDROGENASE TYPE 2; ALDOSTERONE SYNTHASE; CORTICOTROPIN; CORTISONE; CYTOCHROME P450; CYTOCHROME P450 11B1; CYTOCHROME P450 17; DEOXYCORTICOSTERONE; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR; POTASSIUM; PRASTERONE; RENIN; SODIUM CHANNEL; STEROID 11BETA MONOOXYGENASE; STEROID 17ALPHA MONOOXYGENASE; STEROID HORMONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; UNCLASSIFIED DRUG;

CHIMERA; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; HORMONE BLOOD LEVEL; HUMAN; HYPERALDOSTERONISM; HYPERTENSION; JUVENILE; LIDDLE SYNDROME; MOLECULAR BIOLOGY; PHENOTYPE; PLASMA RENIN ACTIVITY; POTASSIUM BLOOD LEVEL; PREVALENCE; PRIORITY JOURNAL; REVIEW; SEX DIFFERENTIATION; SODIUM ABSORPTION; STEROID METABOLISM; STEROIDOGENESIS;

11-BETA-HYDROXYSTEROID DEHYDROGENASES; ALDOSTERONE SYNTHASE; CHILD; EPITHELIAL SODIUM CHANNEL; HUMANS; HYDROXYSTEROID DEHYDROGENASES; HYPERTENSION; MUTATION; RECEPTORS, MINERALOCORTICOID; SODIUM CHANNELS; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; STEROIDS;

EID: 0035217039     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000049999     Document Type: Review

References (78)

1. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
2. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone
3. Unusual steroid excretion in a child with low-renin hypertension
4. A chimaeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
5. Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel
6. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
7. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy
8. Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London
9. A genetic defect resulting in mild low-renin hypertension
10. Blood pressure in childhood: Pooled findings of six European studies
11. Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: A working group report from the National High Blood Pressure Education Program
12. Hypertension in pediatric patients
13. Hypertension in children
14. Clinical, biochemical and pathological features of low-renin ('primary') hyperaldosteronism
15. Regulation of apical membrane Na and K channels in rat renal collecting tubules by aldosterone
16. Aldosterone regulation of gene transcription leading to control of ion transport
17. Hypermineralocorticism without elevation of plasma aldosterone: Deoxycorticosterone-producing adrenal adenoma and hyperplasia
18. Elevated urinary excretion of 18-oxocortisol in glucocorticoid-suppressible aldosteronism
19. Renal mineralocorticoid receptors and hippocampal corticosterone-binding species have identical intrinsic steroid specificity
20. Mineralocorticoid action: Target tissue specificity is enzyme, not receptor, mediated
21. Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: Adrenal enzyme defects and exaggerated adrenarche
22. Mass spectrometry in the diagnosis of steroid-related disorders in hypertension research
23. Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension
24. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
25. Aldosterone excretion rate and blood pressure in essential hypertension are related to polymorphic differences in the aldosterone synthase gene CYP11B2
26. New studies of the 11β-hydroxylase and 18-hydroxylase enzymes in the hypertensive form of congenital adrenal hyperplasia
27. Clinical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
28. A mutation in CYP11B1 (Arg-448-His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin
29. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
30. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. A study of 25 patients
31. Characterization of two genes encoding human steroid 11β-hydroxylase (P-450(11)β)
32. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11β-hydroxylase deficiency
33. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
34. The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity
35. 17α-Hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition
36. Case report: 17α-Hydroxylase/17,20-lyase deficiency: A rare cause of endocrine hypertension
37. Cytochrome P450c17 (steroid 17α-hydroxlase/17,20 lyase): Cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues
38. Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17α) results in partial combined 17α-hydroxylase/17,20-lyase deficiency
39. Seventeen α-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene
40. Non-tumorous 'primary' aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism)
41. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase
42. Altered 11β-hydroxylase activity in glucocorticoid-suppressible hyperaldosteronism
43. Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: Aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene
44. Purification and characterization of two distinct forms of rat adrenal cytochrome P450(11)β: Functional and structural aspects
45. Role of steroid 11β-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans
46. Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
47. Heterogeneous hypertension
48. Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I
49. Variation of phenotype in patients with glucocorticoid-remediable aldosteronism
50. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism
51. Structural analysis and evaluation of the aldosterone synthase gene in hypertension
52. Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily
53. Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements
54. Cloning of human mineralocorticoid receptor complementary DNA: Structural and functional kinship with the glucocorticoid receptor
55. Cloning and expression of rat cDNA encoding corticosteroid 11β-dehydrogenase
56. Cloning of the 11β-HSD type II enzyme from human kidney
57. The human gene for 11β-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization
58. Cloning and tissue distribution of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme
59. NAD(+)-dependent isoform of 11β-hydroxysteroid dehydrogenase. Cloning and characterization of cDNA from sheep kidney
60. Immunohistochemical localization of the 11β-hydroxysteroid dehydrogenase type II enzyme in human kidney and placenta
61. Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase
62. The R337C mutation generates a high Km 11β-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess
63. Several homozygous mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess
64. The 11β-hydroxysteroid dehydrogenase type II enzyme: Biochemical consequences of the congenital R337C mutation
65. Point mutations abolish 11β-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess
66. Role of the 11β-hydroxysteroid dehydrogenase type 2 in blood pressure regulation
67. Deficient inactivation of cortisol by 11β-hydroxysteroid dehydrogenase in essential hypertension
68. Evidence of coexisting changes in 11β-hydroxysteroid dehydrogenase and 5β-reductase activity in subjects with untreated essential hypertension
69. Molecular basis of human salt sensitivity: The role of the 11β-hydroxysteroid dehydrogenase type 2
70. Structural analysis of the 11β-hydroxysteroid dehydrogenase type 2 gene in end-stage renal disease
71. Brief report: Liddle's syndrome revisited - A disorder of sodium reabsorption in the distal tubule
72. The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle's syndrome
73. Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle syndrome
74. Membrane topology of the epithelial sodium channel in intact cells
75. Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na[sup]+[/sup] channel
76. Liddle syndrome: An autosomal dominant form of human hypertension
77. Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension
78. Mutations in the carboxy-terminus of the beta and gamma subunits of the epithelial sodium channel are not present in patients with hypertensive crisis