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Background: We aimed to analyze hypertension in neurofibromatosis type 1 (NF1) in a Finnish population-based cohort in 1996-2014.

Methods: A cohort of 1365 individuals with confirmed NF1 was compared with a control cohort of 13,923 individuals matched for age, sex, and area of residence. Diagnoses of hypertension were retrieved from the Finnish Care Register for Health Care. These registered data were separately analyzed for secondary and essential hypertension. Purchases of antihypertensive drugs were queried from the Finnish Register of Reimbursed Drug Purchases.

Results: We identified 115 NF1 patients with hospital diagnosis of hypertension. Our findings revealed a hazard ratio (HR) of 1.64 (95% CI 1.34-2.00, p < 0.001) in NF1 versus controls. NF1 patients presented with a significantly increased hazard for both secondary hypertension (n = 9, HR 3.76, 95% CI 1.77-7.95, p < 0.001) and essential hypertension (n = 98, HR 1.73, 95% CI 1.39-2.14, p < 0.001). No difference in the HR of hypertension was observed between men and women, while NF1 patients with essential hypertension were, on average, younger than the controls. The proportions of individuals with antihypertensive medication did not differ between NF1 patients and controls (OR 0.85).

Conclusion: NF1 is a risk factor for hypertension. Despite the recognized risk for secondary hypertension, essential hypertension is the predominant type in NF1.

Titel:	Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes.
Autor/in / Beteiligte Person:	Loponen, N ; Ylä-Outinen, H ; Kallionpää, RA ; Valtanen, M ; Auranen, K ; Järveläinen, H ; Peltonen, S ; Peltonen, J
Zeitschrift:	Molecular genetics & genomic medicine, Jg. 12 (2024), Heft 1, S. e2346
Veröffentlichung:	[Hoboken, NJ] : John Wiley & Sons, [2013]-, 2024
Medientyp:	academicJournal
ISSN:	2324-9269 (electronic)
DOI:	10.1002/mgg3.2346
Schlagwort:	Male Humans Female Essential Hypertension epidemiology Essential Hypertension complications Risk Factors Finland epidemiology Neurofibromatosis 1 diagnosis Hypertension epidemiology
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2346. <i>Date of Electronic Publication: </i>2023 Dec 22. MeSH Terms: Neurofibromatosis 1* / diagnosis ; Hypertension* / epidemiology ; Male ; Humans ; Female ; Essential Hypertension / epidemiology ; Essential Hypertension / complications ; Risk Factors ; Finland / epidemiology References: Bergqvist, C., Servy, A., Valeyrie-Allanore, L., Ferkal, S., Combemale, P., Wolkenstein, P., & NF France Network. (2020). Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet Journal of Rare Diseases, 15(1), 37. https://doi.org/10.1186/S13023-020-1310-3. ; Carton, C., Evans, D. G., Blanco, I., Friedrich, R. E., Ferner, R. E., Farschtschi, S., Salvador, H., Azizi, A. A., Mautner, V., Röhl, C., Peltonen, S., Stivaros, S., Legius, E., Oostenbrink, R., Brunet, J., van Calenbergh, F., Cassiman, C., Czech, T., Gavarrete de León, M. J., … Wagner, A. (2023). ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine, 56, 101818. https://doi.org/10.1016/j.eclinm.2022.101818. ; Colhoun, H. M., Hemingway, H., & Poulter, N. R. (1998). Socio-economic status and blood pressure: An overview analysis. Journal of Human Hypertension, 12(2), 91-110. https://doi.org/10.1038/SJ.JHH.1000558. ; Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F., & Dalton, S. O. (2019). Educational delay and attainment in persons with neurofibromatosis 1 in Denmark. European Journal of Human Genetics, 27(6), 857-868. https://doi.org/10.1038/S41431-019-0359-8. ; Dubov, T., Toledano-Alhadef, H., Chernin, G., Constantini, S., Cleper, R., & Ben-Shachar, S. (2016). High prevalence of elevated blood pressure among children with neurofibromatosis type 1. Pediatric Nephrology, 31(1), 131-136. https://doi.org/10.1007/S00467-015-3191-6. ; Faris, M., Baliss, M., Coni, R., & Nambudiri, V. (2021). Severe hypertension leading to hemorrhagic stroke in Neurofibromatosis type 1. Cureus, 13(4), e14658. https://doi.org/10.7759/CUREUS.14658. ; Ferner, R. E., Huson, S. M., Thomas, N., Moss, C., Willshaw, H., Evans, D. G., Upadhyaya, M., Towers, R., Gleeson, M., Steiger, C., & Kirby, A. (2007). Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics, 44(2), 81-88. https://doi.org/10.1136/JMG.2006.045906. ; Fossali, E., Signorini, E., Intermite, R. C., Casalini, E., Lovaria, A., Maninetti, M. M., & Rossi, L. N. (2000). Renovascular disease and hypertension in children with neurofibromatosis. Pediatric Nephrology, 14(8-9), 806-810. https://doi.org/10.1007/S004679900260. ; Friedman, J. M., Arbiter, J., Epstein, J. A., Gutmann, D. H., Huot, S. J., Lin, A. E., McManus, B., & Korf, B. R. (2002). Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force. Genetics in Medicine, 4(3), 105-111. https://doi.org/10.1097/00125817-200205000-00002. ; Gutmann, D. H., Ferner, R. E., Listernick, R. H., Korf, B. R., Wolters, P. L., & Johnson, K. J. (2017). Neurofibromatosis type 1. Nature Reviews. Disease Primers, 3, 3. https://doi.org/10.1038/NRDP.2017.4. ; Johansson, E., Kallionpää, R. A., Böckerman, P., Peltonen, J., & Peltonen, S. (2021). A rare disease and education: Neurofibromatosis type 1 decreases educational attainment. Clinical Genetics, 99(4), 529-539. https://doi.org/10.1111/CGE.13907. ; Johansson, E., Kallionpää, R. A., Böckerman, P., Peltonen, S., & Peltonen, J. (2022). The rare disease neurofibromatosis 1 as a source of hereditary economic inequality: Evidence from Finland. Genetics in Medicine, 24(4), 870-879. https://doi.org/10.1016/J.GIM.2021.11.024. ; Jouhilahti, E. M., Peltonen, S., Heape, A. M., & Peltonen, J. (2011). The pathoetiology of neurofibromatosis 1. The American Journal of Pathology, 178(5), 1932-1939. https://doi.org/10.1016/J.AJPATH.2010.12.056. ; Kallionpää, R. A., Johansson, E., Böckerman, P., Peltonen, J., & Peltonen, S. (2023). The contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland. European Journal of Human Genetics. https://doi.org/10.1038/s41431-023-01426-5. ; Kallionpää, R. A., Uusitalo, E., Leppävirta, J., Pöyhönen, M., Peltonen, S., & Peltonen, J. (2018). Prevalence of neurofibromatosis type 1 in the Finnish population. Genetics in Medicine, 20(9), 1082-1086. https://doi.org/10.1038/GIM.2017.215. ; Kenborg, L., Duun-Henriksen, A. K., Dalton, S. O., Bidstrup, P. E., Doser, K., Rugbjerg, K., Pedersen, C., Krøyer, A., Johansen, C., Andersen, K. K., Østergaard, J. R., Hove, H., Sørensen, S. A., Riccardi, V. M., Mulvihill, J. J., & Winther, J. F. (2020). Multisystem burden of neurofibromatosis 1 in Denmark: Registry- and population-based rates of hospitalizations over the life span. Genetics in Medicine, 22(6), 1069-1078. https://doi.org/10.1038/S41436-020-0769-6. ; Képénékian, L., Mognetti, T., Lifante, J. C., Giraudet, A. L., Houzard, C., Pinson, S., Borson-Chazot, F., & Combemale, P. (2016). Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1. European Journal of Endocrinology, 175(4), 335-344. https://doi.org/10.1530/EJE-16-0233. ; Lama, G., Graziano, L., Calabrese, E., Grassia, C., Rambaldi, P. F., Cioce, F., Tedesco, M. A., di Salvo, G., & Esposito-Salsano, M. (2004). Blood pressure and cardiovascular involvement in children with neurofibromatosis type 1. Pediatric Nephrology, 19(4), 413-418. https://doi.org/10.1007/S00467-003-1397-5. ; Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., Peltonen, S., Rauen, K. A., Riccardi, V., … Plotkin, S. R. (2021). Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation. Genetics in Medicine, 23(8), 1506-1513. https://doi.org/10.1038/S41436-021-01170-5. ; Leng, B., Jin, Y., Li, G., Chen, L., & Jin, N. (2015). Socioeconomic status and hypertension: A meta-analysis. Journal of Hypertension, 33(2), 221-229. https://doi.org/10.1097/HJH.0000000000000428. ; Leppävirta, J., Kallionpää, R. A., Uusitalo, E., Vahlberg, T., Pöyhönen, M., Peltonen, J., & Peltonen, S. (2018). Congenital anomalies in neurofibromatosis 1: A retrospective register-based total population study. Orphanet Journal of Rare Diseases, 13(1), 5. https://doi.org/10.1186/S13023-017-0756-4. ; Merker, V. L., Knight, P., Radtke, H. B., Yohay, K., Ullrich, N. J., Plotkin, S. R., & Jordan, J. T. (2022). Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists. Orphanet Journal of Rare Diseases, 17(1), 44. https://doi.org/10.1186/S13023-022-02196-X. ; National Institutes of Health Consensus Development Conference. (1988). Neurofibromatosis. Conference statement. Archives of Neurology, 45(5), 575-578. https://doi.org/10.1001/archneur.1988.00520290115023. ; Norton, K. K., Xu, J., & Gutmann, D. H. (1995). Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. Neurobiology of Disease, 2(1), 13-21. https://doi.org/10.1006/NBDI.1995.0002. ; Patel, P. A., & Cahill, A. M. (2021). Renovascular hypertension in children. CVIR Endovascular, 4(1), 10. https://doi.org/10.1186/S42155-020-00176-5. ; Stewart, D. R., Korf, B. R., Nathanson, K. L., Stevenson, D. A., & Yohay, K. (2018). Care of adults with neurofibromatosis type 1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 20(7), 671-682. https://doi.org/10.1038/GIM.2018.28. ; Uusitalo, E., Leppävirta, J., Koffert, A., Suominen, S., Vahtera, J., Vahlberg, T., Pöyhönen, M., Peltonen, J., & Peltonen, S. (2015). Incidence and mortality of neurofibromatosis: A total population study in Finland. The Journal of Investigative Dermatology, 135(3), 904-906. https://doi.org/10.1038/JID.2014.465. ; Uusitalo, E., Rantanen, M., Kallionpää, R. A., Pöyhönen, M., Leppävirta, J., Ylä-Outinen, H., Riccardi, V. M., Pukkala, E., Pitkäniemi, J., Peltonen, S., & Peltonen, J. (2016). Distinctive cancer associations in patients with neurofibromatosis type 1. Journal of Clinical Oncology, 34(17), 1978-1986. https://doi.org/10.1200/JCO.2015.65.3576. ; Zinnamosca, L., Petramala, L., Cotesta, D., Marinelli, C., Schina, M., Cianci, R., Giustini, S., Sciomer, S., Anastasi, E., Calvieri, S., de Toma, G., & Letizia, C. (2011). Neurofibromatosis type 1 (NF1) and pheochromocytoma: Prevalence, clinical and cardiovascular aspects. Archives of Dermatological Research, 303(5), 317-325. https://doi.org/10.1007/S00403-010-1090-Z. Grant Information: Cancer Foundation Finland; Turku University Hospital Contributed Indexing: Keywords: NF1; antihypertensive medication; essential hypertension; neurofibromatosis 1; secondary hypertension Entry Date(s): Date Created: 20231222 Date Completed: 20240130 Latest Revision: 20240130 Update Code: 20240130 PubMed Central ID: PMC10767585

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Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes.