Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

Abstract Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency...

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Autores principales:	Cecilie Ejerskov, Mette Gaustadnes, John R. Ostergaard, klaus Krogh, Kasper Thorsen, Anders D. Borglum, Annette Haagerup
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/508979825b454966a497aed54ffadbfa
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spelling	oai:doaj.org-article:508979825b454966a497aed54ffadbfa2021-12-02T17:14:58ZExploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum10.1038/s41598-021-87686-x2045-2322https://doaj.org/article/508979825b454966a497aed54ffadbfa2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-87686-xhttps://doaj.org/toc/2045-2322Abstract Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. In this study, associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. Among 277 patients with NF1, 49 had constipation. The highest rate of constipation was found among patients with a high perception of NF1 illness burden, and patients with constipation had a significantly higher NF1 illness burden when comparing the “not bothered” and the “very bothered” (p = 0.013). We found no significant association between constipation and the remaining measures on severity of NF1, nor between constipation and genetic variants. When observing the NF1 mutational spectrum, one variant (c.1013A>G (p.Asp338Gly/p.?) was identified in three patients with constipation of which two patients were related. The variant c.2970_2972delAAT (p.Met992del) associated with a mild NF1 phenotype was identified in two related patients with constipation. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. The results suggest an association between constipation and a high degree of illness burden. Awareness of this association among physicians could lead to more patients with NF1 being diagnosed with constipation. Constipation impacts on quality of life, hence a timely diagnosis and treatment will improve quality of life.Cecilie EjerskovMette GaustadnesJohn R. Ostergaardklaus KroghKasper ThorsenAnders D. BorglumAnnette HaagerupNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Cecilie Ejerskov Mette Gaustadnes John R. Ostergaard klaus Krogh Kasper Thorsen Anders D. Borglum Annette Haagerup Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
description	Abstract Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. In this study, associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. Among 277 patients with NF1, 49 had constipation. The highest rate of constipation was found among patients with a high perception of NF1 illness burden, and patients with constipation had a significantly higher NF1 illness burden when comparing the “not bothered” and the “very bothered” (p = 0.013). We found no significant association between constipation and the remaining measures on severity of NF1, nor between constipation and genetic variants. When observing the NF1 mutational spectrum, one variant (c.1013A>G (p.Asp338Gly/p.?) was identified in three patients with constipation of which two patients were related. The variant c.2970_2972delAAT (p.Met992del) associated with a mild NF1 phenotype was identified in two related patients with constipation. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. The results suggest an association between constipation and a high degree of illness burden. Awareness of this association among physicians could lead to more patients with NF1 being diagnosed with constipation. Constipation impacts on quality of life, hence a timely diagnosis and treatment will improve quality of life.
format	article
author	Cecilie Ejerskov Mette Gaustadnes John R. Ostergaard klaus Krogh Kasper Thorsen Anders D. Borglum Annette Haagerup
author_facet	Cecilie Ejerskov Mette Gaustadnes John R. Ostergaard klaus Krogh Kasper Thorsen Anders D. Borglum Annette Haagerup
author_sort	Cecilie Ejerskov
title	Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
title_short	Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
title_full	Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
title_fullStr	Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
title_full_unstemmed	Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
title_sort	exploring associations between constipation, severity of neurofibromatosis type 1 and nf1 mutational spectrum
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/508979825b454966a497aed54ffadbfa
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Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

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