Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group.
Introduction: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagn...
| Publicado en: | Clinical Pathology pp. 1 - 9 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Sage Publications Inc.
10/19/2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=146552219&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 146552219 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 2632010X M8A9 jtl: Clinical Pathology issn: 2632010X maglogo: Y pubinfo: dt: 10/19/2020 pid: 344 pub: Sage Publications Inc. place: Thousand Oaks, California artinfo: ui: 146552219 146552219 146552219 10.1177/2632010X20928930 146552219 ppf: 1 ppct: 8 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group. aug: au: Santos, Alessandra Geller, Mauro Mezitis, Spyros Rubenstein, Allan E Oliveira, Lisa Medeiros Lima, Daniel JM Suchmacher Neto, Mendel Nigri, Rafael Cunha, Karin Gonçalves Soares Takirambudde, Sanyu Gonçalves Ribeiro, Marcia affil: Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil sug: subj: Neurofibromatosis 1 Vitamin D Blood Vitamin D Blood Age Factors Sex Factors Sunlight Tumor Burden Human Brazil Male Female Child, Preschool Infant Child Adolescence Young Adult Cross Sectional Studies Nonexperimental Studies Child, Preschool: 2-5 years Infant: 1-23 months Child: 6-12 years Adolescent: 13-18 years Male Female ab: Introduction: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear. Objectives: The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas. Methods: This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Misericórdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure. Results: Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6 years (mean age 10.95 years) and the median was 11.11 years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82 ng/mL (±12.31) and the median was 29 ng/mL (minimum value of 10.40 ng/mL and maximum of 79.19 ng/mL). Conclusions: The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19 years. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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