Low-renin hypertension of childhood

Endocrinology and Metabolism Clinics of North America

Volumn 40, Issue 2, 2011, Pages 369-377

  Parsa, Alan A ^a   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Adrenal synthetic defect; Childhood; Low renin hypertension; Mineralocorticoid excess

Indexed keywords

DEOXYCORTICOSTERONE; DEXAMETHASONE; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR; RENIN; SPIRONOLACTONE; STEROID 11BETA MONOOXYGENASE; STEROID 17ALPHA MONOOXYGENASE;

11BETA MONOOXYGENASE DEFICIENCY; 17ALPHA MONOOXYGENASE DEFICIENCY; ADRENAL GLAND MALFORMATION; BREAST RECONSTRUCTION; CHILDHOOD; CONGENITAL ADRENAL HYPERPLASIA; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; GENE MUTATION; GENETICS; GENOTYPE; HUMAN; HYPERALDOSTERONISM; HYPERTENSION; LOW RENIN HYPERTENSION; ONSET AGE; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; PHENOTYPE; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; REVIEW;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERALDOSTERONISM; HYPERTENSION; INFANT; INFANT, NEWBORN; MALE; MINERALOCORTICOID EXCESS SYNDROME, APPARENT; RENIN;

EID: 79955710128     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2011.01.004     Document Type: Review

References (17)

1. New M.I., Geller D.S., Fallo F. Monogenic low renin hypertension. Trends Endocrinol Metab 2005, 16(3):92-97. [review].
2. Bhangoo A., Wilson R., New M.I., et al. Donor splice mutation in the 11β-hydroxylase (CYP11B1) gene resulting in sex reversal: a case report and review of the literature. J Pediatr Endocrinol Metab 2006, 19:1267-1282.
3. White P.C., Schmitt K., Kofler R., et al. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Hum Mol Genet 1997, 6:1829-1834.
4. Rumsby G., Arlt W., Krone N., et al. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 2010, 95:779-788.
5. Biglieri E.G. 17-Hydroxylation deficiency in man. J Clin Invest 1966, 45:1946-1954.
6. Miller W.L. Steroid 17 α-hydroxylase deficiency-not rare everywhere. J Clin Endocrinol Metab 2004, 89(1):40-42.
7. New M.I., (with the technical assistance of Suvannakul L) Male pseudohermaphroditism due to 17α hydroxylase deficiency. J Clin Invest 1970, 49:1930-1941.
8. Imai T., Yanase T., Waterman M.R., et al. Canadian Mennonites and individuals residing in the Friesland region of the Netherlands share the same molecular basis of 17α hydroxylase deficiency. Hum Genet 1992, 89:95-96.
9. Ulick S., Ramirez L.C., New M.I. An abnormality in steroid reductive metabolism in a hypertensive syndrome. J Clin Endocrinol Metab 1977, 44:799-802.
10. Morineau G., Sulmont V., Salomon R., et al. Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. J Am Soc Nephrol 2006, 17(11):3176-3184.
11. New M.I., Levine L.S., Biglieri E.G., et al. Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab 1977, 44:924-933.
12. Wilson R.C., Harbison M.D., Krozowski Z.S., et al. Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1995, 80(11):3145-3150.
13. Krozowski Z., Baker E., Obeyesekere V., et al. Localization of the gene for human 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) to chromosome band 16q22. Cytogenet Cell Genet 1995, 71(2):124-125.
14. Mendonça B.B., Batista M.C., Kater C.E. Spironolactone-reversible rickets associated with 11β-hydroxysteroid dehydrogenase deficiency syndrome. J Pediatr 1986, 109(6):989-993.
15. Palermo M., Delitala G., Sorba G., et al. Does kidney transplantation normalize cortisol metabolism in apparent mineralocorticoid excess syndrome?. J Endocrinol Invest 2000, 23(7):457-462.
16. Lavery G.G., Ronconi V., Draper N., et al. Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. Hypertension 2003, 42:123-129.
17. Ugrasbul F., Wiens T., Rubinstein P., et al. Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab 1999, 84:4735-4738.