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Objective: To analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with 17α-hydroxylase/17,20-lyase deficiency (17-OHD).

Methods: A total of 68 patients with 17-OHD were recruited in the Peking Union Medical College Hospital from 2003 to 2021. The incidence of hypertension and HMOD was respectively analyzed. CYP17A1 sequencing was performed and the enzyme activity of mutant CYP17A1 was determined by analyzing the characteristics of mutation itself and the functional data reported previously. A logistic regression model was employed to analyze the factors related to HMOD and the specific damaged organs in 17-OHD patients.

Result(s): Sixty-five patients (95.6%) exhibited hypertension, 32 of whom were diagnosed with HMOD. c.985_987delTACinsAA (p.Y329KfsX418) (53.8%) and c.1459_1467del (p. del D487_F489) (11.4%) were the top two mutations, and no correlation was found between enzyme activity of mutant CYP17A1 and HMOD. The risk of HMOD increased by 32% for each additional year of hypertension duration, 10.2-fold for each one-grade increase in hypertension level, 2.3-fold for each grade of exacerbation of hypokalemia.

Conclusion: Patients with 17-OHD experience a high incidence of HMOD. There was no correlation between the HMOD occurrence and enzyme activity of mutant CYP17A1. Longer duration of hypertension, more severe hypertension, and hypokalemia were independent risk factors for the occurrence of HMOD in patients with 17-OHD.

Titel:	High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency.
Autor/in / Beteiligte Person:	Zhao, Z ; Lu, L ; Wang, O ; Wu, X ; Sun, B ; Zhang, W ; Wang, X ; Mao, J ; Chen, S ; Tong, A ; Nie, M
Link:	Full Text Finder (Volltext)
Zeitschrift:	Endocrine, Jg. 76 (2022-04-01), Heft 1, S. 151-161
Veröffentlichung:	Feb. 1996- : Totowa, NJ : Humana Press ; <i>Original Publication</i>: Houndsmills, Basingstoke, Hants, UK : Macmillan Press, c1994-, 2022
Medientyp:	academicJournal
ISSN:	1559-0100 (electronic)
DOI:	10.1007/s12020-021-02966-w
Schlagwort:	China epidemiology Humans Incidence Mixed Function Oxygenases genetics Mutation Steroid 17-alpha-Hydroxylase genetics Adrenal Hyperplasia, Congenital genetics Hypertension epidemiology Hypertension genetics Hypokalemia
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Endocrine] 2022 Apr; Vol. 76 (1), pp. 151-161. <i>Date of Electronic Publication: </i>2022 Jan 14. MeSH Terms: Adrenal Hyperplasia, Congenital* / genetics ; Hypertension* / epidemiology ; Hypertension* / genetics ; Hypokalemia* ; China / epidemiology ; Humans ; Incidence ; Mixed Function Oxygenases / genetics ; Mutation ; Steroid 17-alpha-Hydroxylase / genetics References: D. EL-Maouche, W. Arlt, D.P. Merke, Congenital adrenal hyperplasia. Lancet 390(10108), 2194–2210 (2017). (PMID: 10.1016/S0140-6736(17)31431-9) ; C.E. Kater, E.G. Biglieri, Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol. Metab. Clin. North Am. 23(2), 341–357 (1994). (PMID: 10.1016/S0889-8529(18)30101-4) ; W.L. Miller, R.J. Auchus, D.H. Geller, The regulation of 17,20 lyase activity. Steroids 62(1), 133–142 (1997). (PMID: 10.1016/S0039-128X(96)00172-9) ; B.C. Chung, J. Picado-Leonard, M. Haniu et al. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc. Natl. Acad. Sci. U S A. 84(2), 407–411 (1987). (PMID: 10.1073/pnas.84.2.407) ; R.J. Auchus, Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J. Steroid. Biochem. Mol. Biol. 165(Pt A), 71–78 (2017). (PMID: 10.1016/j.jsbmb.2016.02.002) ; T. Yanase, E.R. Simpson, M.R. Waterman, 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr. Rev. 12(1), 91–108 (1991). (PMID: 10.1210/edrv-12-1-91) ; R. Fontenele, M. Costa-Santos, C.E. Kater, 17alpha-hydroxylase deficiency is an underdiagnosed disease: high frequency of misdiagnoses in a large cohort of brazilian patients. Endocr. Pract. 24(2), 170–178 (2018). (PMID: 10.4158/EP171987.OR) ; L. Hinz, D. Pacaud, G. Kline, Congenital adrenal hyperplasia causing hypertension: an illustrative review. J. Hum. Hypertens. 32(2), 150–157 (2018). (PMID: 10.1038/s41371-017-0002-5) ; B. Williams, G. Mancia, W. Spiering et al. 2018 ESC/ESH guidelines for the management of arterial hypertension. Eur. Heart J. 39(33), 3021–3104 (2018). (PMID: 10.1093/eurheartj/ehy339) ; Unger T., Borghi C., Charchar F. et al. 2020 International society of hypertension global hypertension practice guidelines. J. Hypertens. 38, 982–1004 (2020). ; S.V. Greve, M.K. Blicher, T. Sehestedt et al. Effective risk stratification in patients with moderate cardiovascular risk using albuminuria and atherosclerotic plaques in the carotid arteries. J. Hypertens. 33(8), 1563–1570 (2015). (PMID: 10.1097/HJH.0000000000000584) ; P. Perrone-Filardi, A. Coca, M. Galderisi et al. Noninvasive cardiovascular imaging for evaluating subclinical target organ damage in hypertensive patients: a consensus article from the European Association of Cardiovascular Imaging, the European Society of Cardiology Council on Hypertension and the Euro. J. Hypertens. 35(9), 1727–1741 (2017). (PMID: 10.1097/HJH.0000000000001396) ; B.H. Van Den Born, G.Y.H. Lip, J. Brguljan-Hitij et al. ESC council on hypertension position document on the management of hypertensive emergencies. Eur. Heart J. Cardiovasc. Pharmacother. 5(1), 37–46 (2019). (PMID: 10.1093/ehjcvp/pvy032) ; G. De Simone, R.B. Devereux, R. Izzo et al. Lack of reduction of left ventricular mass in treated hypertension: the strong heart study. J. Am. Heart Assoc. 2(3), e000144 (2013). (PMID: 10.1161/JAHA.113.000144) ; M.T. Lonnebakken, R.Izzo, C.Mancusi, et al. Left ventricular hypertrophy regression during antihypertensive treatment in an outpatient clinic (the Campania Salute Network). J. Am. Heart Assoc 6(3), e004152 (2017). (PMID: 10.1161/JAHA.116.004152) ; H. Triantafyllidi, D. Be Nas, A. Schoinas, et al. Hypertension-mediated organ damage regression associates with blood pressure variability improvement three years after successful treatment initiation in essential hypertension. J. Clin. Hypertens (Greenwich) 23(6), 1150–1158 (2021). (PMID: 10.1111/jch.14209) ; M. Zhang, S. Sun, Y. Liu et al. New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency. J. Steroid Biochem. Mol. Biol. 150, 11–16 (2015). (PMID: 10.1016/j.jsbmb.2015.02.007) ; C.S. Marivania, C.E. Kater, R.J. Auchus, Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-Hydroxylase deficiency. J. Clin. Endocrinol. Metabol. 1, 49–60 (2004). ; X. Zhang, M. Zhang, Z. Zhao et al. Geographic variation in prevalence of adult obesity in China: results from the 2013–2014 national chronic disease and risk factor surveillance. Ann. Intern. Med. 172(4), 291–293 (2020). (PMID: 10.7326/M19-0477) ; F.J. Gennari, Hypokalemia. N. Engl. J. Med. 339(7), 451–458 (1998). (PMID: 10.1056/NEJM199808133390707) ; A.J. Viera, N. Wouk, Potassium disorders: hypokalemia and hyperkalemia. Am. Fam. Physician 92(6), 487–495 (2015). (PMID: 26371733) ; J. Ashurst, S.R. Sergent, B.R. Sergent, Evidence-based management of potassium disorders in the emergency department. Emerg. Med. Pract. 18(11), 1–24 (2016). (PMID: 27775507) ; Chinese Hypertension Prevention and Treatment Guidelines Revision Committee H U C, Cardiology Branch of Chinese Medical Association. Chinese Guidelines for the Prevention and Treatment of Hypertension (2018 Revised Edition). Chin J. Cardiovasc Med. 24(1), 25 (2009). ; C.A. Marsh, R.J. Auchus, Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil. Steril. 101(2), 317–322 (2014). (PMID: 10.1016/j.fertnstert.2013.11.011) ; Y.P. Wang, J. Li, J.X. Li et al. Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency. Metabolism 60(10), 1386–1391 (2011). (PMID: 10.1016/j.metabol.2011.03.008) ; N. Laflamme, J.F. Leblanc, J. Mailloux et al. Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients. J. Clin. Endocrinol. Metab. 81(1), 264–268 (1996). (PMID: 10.1210/jcem.81.1.8550762) ; N. Nájera, N. Garibay, Y. Pastrana et al. Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene. Endocr. Pathol. 20(4), 249–255 (2009). (PMID: 10.1007/s12022-009-9088-9) ; E.L. Van Den Akker, J.W. Koper, A.L. Boehmer et al. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J. Clin. Endocrinol. Metab. 87(12), 5714–5721 (2002). (PMID: 10.1210/jc.2001-011880) ; Y.M. Kim, M. Kang, J.H. Choi et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism 63(1), 42–49 (2014). (PMID: 10.1016/j.metabol.2013.08.015) ; K. Miura, K. Yasuda, T. Yanase et al. Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. J. Clin. Endocrinol. Metab. 81(10), 3797–3801 (1996). (PMID: 8855840) ; S. Ardhanari, R. Kannuswamy, K. Chaudhary et al. Mineralocorticoid and apparent mineralocorticoid syndromes of secondary hypertension. Adv. Chronic. Kidney Dis. 22(3), 185–195 (2015). (PMID: 10.1053/j.ackd.2015.03.002) ; H. Cui, F. Wang, L. Fan et al. Association factors of target organ damage: analysis of 17,682 elderly hypertensive patients in China. Chin Med. J. (Engl) 124(22), 3676–3681 (2011). ; F.F. Wei, Y. Li, L. Zhang et al. Association of target organ damage with 24-hour systolic and diastolic blood pressure levels and hypertension subtypes in untreated Chinese. Hypertension 63(2), 222–228 (2014). (PMID: 10.1161/HYPERTENSIONAHA.113.01940) ; H.E. Nelissen, M.E. Hendriks, F.W.N.M. Wit et al. Target organ damage among hypertensive adults in rural Nigeria: a cross-sectional study. J. Hypertens. 32(3), 487–494 (2014). (PMID: 10.1097/HJH.0000000000000056) ; S. Reungjui, C.A. Roncal, W. Sato et al. Hypokalemic nephropathy is associated with impaired angiogenesis. J. Am. Soc. Nephrol. 19(1), 125–134 (2008). (PMID: 10.1681/ASN.2007030261) ; A.S. Relman, W.B. Schwartz, The kidney in potassium depletion. Am. J. Med. 24(5), 764–773 (1958). (PMID: 10.1016/0002-9343(58)90379-6) ; T. Dyckner, Relation of cardiovascular disease to potassium and magnesium deficiencies. Am. J. Cardiol. 65(23), 44k–46k (1990). (PMID: 10.1016/0002-9149(90)91279-F) ; B.F. Palmer, D.J. Clegg, Physiology and pathophysiology of potassium homeostasis. Adv. Physiol. Educ. 40(4), 480–490 (2016). (PMID: 10.1152/advan.00121.2016) Contributed Indexing: Keywords: 17α-Hydroxylase/17,20-lyase deficiency; Hypertension; Hypertension-mediated organ damage Substance Nomenclature: EC 1.- (Mixed Function Oxygenases) ; EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase) Entry Date(s): Date Created: 20220115 Date Completed: 20220408 Latest Revision: 20220515 Update Code: 20240513

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High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency.