Bone mineral density and bone metabolic markers’ status in children with neurofibromatosis type 1

Poyrazoğlu, Hatice Gamze; Baş, Veysel Nijat; Arslan, Alev; Baştuğ, Funda; Canpolat, Mehmet; Per, Hüseyin; Gümüş, Hakan; Kumandaş, Sefer

doi:10.1515/jpem-2016-0092

Cited by 25 publications

(25 citation statements)

References 19 publications

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“…Tibial bowing occurs in an anterolateral direction and is usually visible in early childhood as bowing of the limb [ 340 ]. Generally, NF1 patients show mild short stature [ 341 ] and low bone mineral density (BMD) [ 342 , 343 , 344 , 345 , 346 , 347 , 348 , 349 ], making them prone to osteomalacia, osteopenia and osteoporosis [ 350 , 351 ].…”

Section: Neurofibromatosismentioning

confidence: 99%

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Riccardi

Perrone

Napolitano

et al. 2020

Cancers

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Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production—occurring in the skin and dependent on sun exposure—contributes to the majority amount of vitamin D present in the body. Since vitamin D receptors (VDRs) are ubiquitous and drive the expression of hundreds of genes, the interest in vitamin D has tremendously grown and its role in different diseases has been extensively studied. Several investigations indicated that vitamin D action extends far beyond bone health and calcium metabolism, showing broad effects on a variety of critical illnesses, including cancer, infections, cardiovascular and autoimmune diseases. Epidemiological studies indicated that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity, for which limited treatment options are available. In this context, vitamin D or its analogues have been used to treat both skin and bone lesions in NF1 patients, alone or combined with other therapeutic agents. Here we provide an overview of vitamin D, its characteristic nutritional properties relevant for health benefits and its role in NF1 disorder. We focus on preclinical and clinical studies that demonstrated the clinical correlation between vitamin D status and NF1 disease, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy.

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Section: Neurofibromatosismentioning

confidence: 99%

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Riccardi

Perrone

Napolitano

et al. 2020

Cancers

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“…Vitamin D has been extensively studied and its insufficiency or deficiency has been acknowledged in some conditions 17,[18][19][20][21] it is much more frequent in countries of the northern hemisphere and in the elderly, due to the lack of sun exposure and the low dietary intake of vitamin D precursors. 22 Low levels of vitamin D have previously been reported in adults 11,[23][24][25][26] and in children 10,25,[27][28][29] with NF1. Studies in the northern hemisphere (three in Germany, two in the United States and one in Italy) of patients with NF1 showed lower levels of vitamin D in these patients as compared to the general population.…”

Section: Discussionmentioning

confidence: 99%

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

Santos

Geller

Mezitis

et al. 2020

Clin Med�Insights�Pathol

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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.

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“…In additino, it only reflects the amount of bone mineral and does not reflect changes in bone metabolism. Bone metabolism markers can reflect changes in bone metabolism and bone reconstruction in the short term, which is closely related to the balance of bone loss and bone synthesis. Therefore, early detection of changes in bone metabolism markers is conducive to the selection of appropriate therapeutic drugs and drug efficacy evaluation.…”

Section: Discussionmentioning

confidence: 99%

Higher concentration of serum C‐terminal cross‐linking telopeptide of type I collagen is positively related with inflammatory factors in postmenopausal women with H‐type hypertension and osteoporosis

Chen

Wei

2019

Orthopaedic Surgery

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ObjectiveTo investigate the changes of inflammatory factors and bone metabolism markers in postmenopausal women with H‐type hypertension and to assess the relationship between them.MethodsPostmenopausal women who were diagnosed with osteoporosis were selected as observation objects. Participants were divided into three groups: only osteoporosis group (osteoporosis group), hypertension combined with osteoporosis group (hypertension group), and H‐type hypertension combined with osteoporosis group (H‐type hypertension group). The changes in bone mineral density and bone metabolic markers (osteocalcin [OC], procollagen type I N‐terminal propeptide (PINP), and C‐terminal cross‐linking telopeptide of type I collagen [CTX]) and inflammatory factors (interleukin‐6 [IL‐6] and tumor necrosis factor‐α [TNF‐α]) were compared among three groups.ResultsIn the hypertension group and the H‐type hypertension group, the bone mineral density of the lumbar spine (0.647 ± 0.038 vs 0.638 ± 0.034 vs 0.668 ± 0.047, P < 0.05) and the femoral neck (0.567 ± 0.047 vs 0.552 ± 0.053 vs 0.618 ± 0.059, P < 0.05) was significantly lower than that in the osteoporosis group. The concentrations of CTX (266.61 ± 64.65 vs 293.09 ± 72.34 vs 235.48 ± 62.85, P < 0.05), IL‐6 (44.36 ± 6.45 vs 48.05 ± 8.04 vs 39.06 ± 7.95, P < 0.05) and TNF‐α (30.53 ± 6.28 vs 34.52 ± 7.15 vs 28.66 ± 6.19, P < 0.01) in the hypertension group and in the H‐type hypertension group were significantly higher than those in the osteoporosis group. The concentrations of OC (30.59 ± 6.43 vs 27.10 ± 6.51, P < 0.05) and PINP (36.36 ± 6.16 vs 33.16 ± 6.77, P < 0.05) in the H‐type hypertension group were increased dramatically. The concentration of CTX was positively correlated with the concentration of IL‐6 (r = 0.587, P < 0.01) and TNF‐α (r = 0.474, P < 0.01) and negatively related with the concentration of OC (r = −0.591, P < 0.01) and PINP (r = −0.646, P < 0.01) and the bone mineral density of the lumbar spine (r = −0.470, P < 0.01) and the femoral neck (r = −0.509, P < 0.01).ConclusionHigher concentration of serum CTX is found in postmenopausal women with H‐type hypertension, which is positively correlated with inflammatory factors. Besides, H‐type hypertension could further enhance the activity of osteoclasts and increase the expressions of inflammatory factors, resulting in the aggravation of osteoporosis.

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Bone mineral density and bone metabolic markers’ status in children with neurofibromatosis type 1

Cited by 25 publications

References 19 publications

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

Higher concentration of serum C‐terminal cross‐linking telopeptide of type I collagen is positively related with inflammatory factors in postmenopausal women with H‐type hypertension and osteoporosis

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