Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1
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Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1. / Schnabel, Claudia; Dahm, Stefan; Streichert, Thomas; Thierfelder, Wulf; Kluwe, Lan; Mautner, Victor F.
In: CLIN BIOCHEM, Vol. 47, No. 7-8, 01.05.2014, p. 560-3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1
AU - Schnabel, Claudia
AU - Dahm, Stefan
AU - Streichert, Thomas
AU - Thierfelder, Wulf
AU - Kluwe, Lan
AU - Mautner, Victor F
N1 - Copyright © 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
PY - 2014/5/1
Y1 - 2014/5/1
N2 - OBJECTIVES: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, frequently associated with reduced bone mineral density. Serum 25-hydroxyvitamin D3 concentrations in NF1 adults are lower than in healthy controls in autumn respectively winter and are inversely correlated with the number of dermal neurofibromas. We investigated 25-hydroxyvitamin D3 levels in children and adults with neurofibromatosis type 1 in winter and summer and compared them to healthy controls to get more pathogenic insights in vitamin D3 metabolism in NF1 patients.DESIGN AND METHODS: NF1 patients were clinically examined and serum 25-hydroxyvitamin D3 concentrations were measured in 58 NF1 adults and 46 children in winter as well as in summer and compared to sex-, age- and month-matched controls.RESULTS: 52 adults suffered from 10 to 5000 dermal neurofibromas, whereas none of the children presented neurofibromas. 25-Hydroxyvitamin D3 increased from winter to summer (mean: 21.0 to 46.5nmol/l) in NF1 adults. This increase was even larger (p=0.0001) than in healthy controls (mean: 50.5 to 60.5nmol/l). However, there were no differences of 25-hydroxyvitamin D3 concentrations in NF1 children and healthy controls both in winter and in summer.CONCLUSIONS: Only adults with NF1 showed lower 25-hydroxyvitamin D3 levels in winter and summer, which are unlikely due to impaired UV-dependent dermal synthesis, but rather might be caused by an accelerated catabolism.
AB - OBJECTIVES: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, frequently associated with reduced bone mineral density. Serum 25-hydroxyvitamin D3 concentrations in NF1 adults are lower than in healthy controls in autumn respectively winter and are inversely correlated with the number of dermal neurofibromas. We investigated 25-hydroxyvitamin D3 levels in children and adults with neurofibromatosis type 1 in winter and summer and compared them to healthy controls to get more pathogenic insights in vitamin D3 metabolism in NF1 patients.DESIGN AND METHODS: NF1 patients were clinically examined and serum 25-hydroxyvitamin D3 concentrations were measured in 58 NF1 adults and 46 children in winter as well as in summer and compared to sex-, age- and month-matched controls.RESULTS: 52 adults suffered from 10 to 5000 dermal neurofibromas, whereas none of the children presented neurofibromas. 25-Hydroxyvitamin D3 increased from winter to summer (mean: 21.0 to 46.5nmol/l) in NF1 adults. This increase was even larger (p=0.0001) than in healthy controls (mean: 50.5 to 60.5nmol/l). However, there were no differences of 25-hydroxyvitamin D3 concentrations in NF1 children and healthy controls both in winter and in summer.CONCLUSIONS: Only adults with NF1 showed lower 25-hydroxyvitamin D3 levels in winter and summer, which are unlikely due to impaired UV-dependent dermal synthesis, but rather might be caused by an accelerated catabolism.
U2 - 10.1016/j.clinbiochem.2014.02.020
DO - 10.1016/j.clinbiochem.2014.02.020
M3 - SCORING: Journal article
C2 - 24613576
VL - 47
SP - 560
EP - 563
JO - CLIN BIOCHEM
JF - CLIN BIOCHEM
SN - 0009-9120
IS - 7-8
ER -