Literature DB >> 32107470

Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.

Line Kenborg1, Anne Katrine Duun-Henriksen2, Susanne O Dalton3, Pernille E Bidstrup3, Karoline Doser3, Kathrine Rugbjerg4, Camilla Pedersen4, Anja Krøyer4, Christoffer Johansen3,5, Klaus Kaae Andersen2, John R Østergaard6, Hanne Hove7,8, Sven Asger Sørensen9, Vincent M Riccardi10, John J Mulvihill11, Jeanette F Winther4,12.   

Abstract

PURPOSE: The aim was to assess lifetime risk for hospitalization in individuals with neurofibromatosis 1 (NF1).
METHODS: The 2467 individuals discharged with a diagnosis indicating NF1 or followed in a clinical center for NF1 were matched to 20,132 general population comparisons. Based on diagnoses in 12 main diagnostic groups and 146 subcategories, we calculated rate ratios (RRs), absolute excess risks (AERs), and hazard ratios for hospitalizations.
RESULTS: The RR for any first hospitalization among individuals with NF1 was 2.3 (95% confidence interval 2.2-2.5). A high AER was seen for all 12 main diagnostic groups, dominated by disorders of the nervous system (14.5% of all AERs), benign (13.6%) and malignant neoplasms (13.4%), and disorders of the digestive (10.5%) and respiratory systems (10.3%). Neoplasms, nerve and peripheral ganglia disease, pneumonia, epilepsy, bone and joint disorders, and intestinal infections were major contributors to the excess disease burden caused by NF1. Individuals with NF1 had more hospitalizations and spent more days in hospital than the comparisons. The increased risk for any hospitalization was observed for both children and adults, with or without an associated cancer.
CONCLUSION: NF1 causes an overall greater likelihood of hospitalization, with frequent and longer hospitalizations involving all organ systems throughout life.

Entities:  

Keywords:  cohort study; hospitalizations; neurofibromatosis 1; population-based

Mesh:

Year:  2020        PMID: 32107470     DOI: 10.1038/s41436-020-0769-6

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  3 in total

Review 1.  Neurofibromatosis type 1 is a disorder of dysplasia: the importance of distinguishing features, consequences, and complications.

Authors:  Vincent Michael Riccardi
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-01

2.  Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden.

Authors:  M Zöller; B Rembeck; H O Akesson; L Angervall
Journal:  Acta Derm Venereol       Date:  1995-03       Impact factor: 4.437

3.  Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

Authors:  V M Riccardi; R A Lewis
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

  3 in total
  3 in total

1.  Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Authors:  Roope A Kallionpää; Sirkku Peltonen; Jussi Leppävirta; Minna Pöyhönen; Kari Auranen; Hannu Järveläinen; Juha Peltonen
Journal:  J Med Genet       Date:  2020-06-22       Impact factor: 6.318

2.  Cohort profile: life with neurofibromatosis 1 - the Danish NF1 cohort.

Authors:  Karoline Doser; Hanne Hove; John R Østergaard; Pernille E Bidstrup; Susanne O Dalton; Mette Møller Handrup; Cecilie Ejerskov; Anja Krøyer; Mia Aagaard Doherty; Jens Richardt Møllegaard Jepsen; John J Mulvihill; Jeanette F Winther; Line Kenborg
Journal:  BMJ Open       Date:  2022-09-20       Impact factor: 3.006

3.  Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Authors:  Matteo Riva; Davide Martorana; Vera Uliana; Edoardo Caleffi; Elena Boschi; Livia Garavelli; Giovanni Ponti; Luca Sangiorgi; Claudio Graziano; Stefania Bigoni; Luca Maria Rocchetti; Simona Madeo; Fiorenza Soli; Enrico Grosso; Diana Carli; Matteo Goldoni; Francesco Pisani; Antonio Percesepe
Journal:  Genes Chromosomes Cancer       Date:  2021-09-03       Impact factor: 4.263

  3 in total

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