Pediatric 25-hydroxyvitamin D concentrationsin neurofibromatosis type 1

Stevenson, David A.; Viskochil, David; Carey, John C.; Sheng, Xiaoming; Murray, Mary; Moyer‐Mileur, Laurie J.; Shelton, Judd; Roberts, William L.; Bunker, Ashley M.; Hanson, Heather; Bauer, Sonja; D’Astous, Jacques

doi:10.1515/jpem.2011.092

Cited by 29 publications

(46 citation statements)

References 35 publications

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“…For example, the average serum concentration of 25-hydroxy-vitamin D (25OHD), which plays a key role in bone metabolism and modulates the absorption of dietary calcium and phosphorus, is lower in NF1 patients than in individuals without NF1,4 and the incidence of fractures has been found to be higher than in siblings and spouses without NF1 5. Low 25OHD concentrations have been associated with tumours and osteopenia or fractures in adults with NF1.…”

Section: Phenotypic Variability In Nf1mentioning

confidence: 99%

“…The serum 25OHD concentration has been found to correlate negatively with the number of dermal neurofibromas in NF1 patients 6. Another study showed low 25OHD concentrations in the majority of children with NF1, potentially because of increased pigmentation and/or decreased sunlight exposure 5. However, low 25OHD concentrations in children were not associated with neurofibromas, and 25OHD levels did not correlate with bone mineral density.…”

Section: Phenotypic Variability In Nf1mentioning

confidence: 99%

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Neurofibromatosis type 1: from genotype to phenotype

et al. 2012

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Although neurofibromatosis 1 (NF1) is a common Mendelian disorder with autosomal-dominant inheritance, its expression is highly variable and unpredictable. Many NF1 patients have been genotyped but few allelephenotype correlations have been identified. NF1 genotype-phenotype correlations are difficult to identify because of the complexity of the NF1 phenotype, its strong age dependency, the relatedness of many clinical features and the huge heterogeneity of pathogenic NF1 mutations. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mutation have only mild symptoms. This phenotypic variability may be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes.

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Section: Phenotypic Variability In Nf1mentioning

confidence: 99%

Section: Phenotypic Variability In Nf1mentioning

confidence: 99%

Neurofibromatosis type 1: from genotype to phenotype

et al. 2012

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“…One could even conclude that both the Armstrong et al and the Hockett et al data substantiate the inverse relation of NF1 serum calcidiol and cutaneous neurofibromas. I would suggest that this is the correct conclusion and, as concluded by Stevenson et al [15] age is an important variable. A second reason for not relying solely on low serum calcidiol in NF1 is that calcidiol is only one component in a very complex biochemical schema.…”

Section: Vitamin D and Nf1: Prologuementioning

confidence: 74%

“…However, since low serum calcidiol among persons with NF1 appears to have been confirmed, for example, by Stevenson et al [15] I am puzzled. One of humanity's most important nutrient hormones is deranged in one of humanity's most common genetic disorders and yet NF1 clinicians and investigators seem to settle for both an incomplete characterization of the "deficiency" (e.g., where do calcitriol and the VDR fit in?)…”

Section: Vitamin D and Nf1: Prologuementioning

confidence: 96%

Hiding in Plain Sight: A Consideration of NF1-Associated Hypovitaminosis D and its Treatment

Riccardi¹

2014

J Genet Syndr Gene Ther

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This article deals with the autosomal dominant human genetic disorder, Neurofibromatosis Type 1 (NF1), and has three main foci. The first is the general principle that substantial advances in understanding the pathogenesis of a genetic disorder can derive from the timely reconsideration of material previously overlooked or otherwise not given its due. There are times when the key to a supposed "mystery" is hiding in plain sight. The second focus is the specific consideration of selected elements of an apparent vitamin D deficiency in NF1. And the third focus of this article reconsiders the mast cell in NF1 pathogenesis, including the potential of NF1 being a "mastocytosis" of sorts, with the prospect of additional grounds for treatment with mast cell blockers, for example, ketotifen.

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“…Çocuk ve erişkinlerden oluşan bir çalışmada kontrollere göre kırık riskinin sırasıyla 3-5 kat arttığı belirtilmiştir (15). D vitamini kemik mineralizasyonunda başlıca düzenleyicidir.…”

Section: Toplam Hasta Sayısı N (%)unclassified

Endocrine Problems in Children with Neurofibromatosis Type 1

Tayfun¹,

Demir²,

Emir³

et al. 2014

Turkish J Pediatr Dis

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ÖZETAmaç: Nörofi bromatozis Tip1 (NF 1) klinik bulguları çocukluk çağında ortaya çıkmaya başlayan ve pek çok sistemi etkileyen otozomal dominant geçişli bir hastalıktır. Birçok endokrin problem özellikle de büyüme ve püberte sorunları NF 1'e eşlik edebilmektedir. Bu çalışma ile NF 1 tanılı hastalarımızın büyüme, pübertal sorunlar ve endokrin problemlerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntemler:Kliniğimizde izlenmekte olan 38 hastanın antropometrik, klinik ve laboratuvar verileri geriye dönük olarak incelendi.Bulgular: Çalışmaya 38 olgu alındı, (18 kız, 20 erkek); %55.3'ü sporadik, %44.7'si ailevi tip NF 1 olgusuydu. Olguların 6'sında maternal geçiş, 11'de paternal geçiş öyküsü vardı. Ortalama başvuru yaşı 10.8 ± 4.4 (2.1 ile 19 yaş) ve 24 hasta (%63.2 ) püberte dönemindeydi. Boy kısalığı 38 hastanın 11'de (%28.9), obezite 5 olguda (%13.2), fazla tartılı olma 5 olguda (%28.9) saptandı. Püberte bozukluğu 7/38 (%18.4) de olup; 2 gecikmiş püberte, 1 santral püberte prekoks,1 prematür telarş,2 prematür pubarş ve 1 pübertal jinekomasti olgusu saptandı. Skolyoz 5 olguda (%13.2) görüldü. Hipotroidi 3/38 (%7.9) da görüldü; 2 olguda otoimmün troidit, 1 olguda konjenital hipotroidi (dishormonogenezis) vardı. D vitamini eksikliği ve yetersizliği sırasıyla %44.7 ve %10.5 saptandı.Sonuç: NF 1 hasta grubunda vitamin D eksikliği, obezite, boy kısalığı, erken ve geç püberte en yaygın görülen endokrin sorunları oluşturmaktadır. Bu nedenle NF 1 tanılı hastaların endokrinolojik açıdan periyodik olarak izlenmesi erken tanı ve uygun tedavi almalarını sağlayacaktır.Anahtar Sözcükler: Boy, Çocukluk çağı, Nörofi bromatozis tip1, Püberte ABSTRACT Objective: Neurofi bromatosis type 1(NF1) is one of the most common autosomal dominant multisystem diseases. Many endocrine problems especially related to puberty and growth may accompany NF1. We evaluated growth, pubertal development and endocrine problems in patients with NF1. Material and Methods:We obtained the anthropometric variables, and clinical and laboratory data of 38 patients (18 girls and 20 boys) with sporadic (55.3%) or familial NF-1 (44.7%). Six patients had affected mothers and 11 had affected fathers). The mean age at referral was 10.8±4.4 years (range 2.10 to 19 years) and 24 patients were pubertal (63.2%). The average age at diagnosis was 6.6 years and the mean follow-up period was 4.2 years.Results: Short stature was recognized in 11 of the 38 children (28.9%). One of them had an endocrine disorder (hypothyroidism). Obesity was diagnosed in 5 cases (13.2 %) and another 5 cases were overweight (13.2%). Puberty was abnormal in 7/38 of the children (18.4%). Two cases of delayed puberty, 1 central precocious puberty (1 male with optic glioma), 1 premature telarche, 2 premature pubarche and 1 pubertal gynecomastia cases were found. Lisch nodules were seen in 9 cases (23.7%). Scoliosis was diagnosed in 5 cases (13.2%). Hypothyroidism was detected in 3/38 (7.9%) children. Two of them had autoimmune thyroiditis and one had congenital hypothyroidism (dyshormonogenesis)....

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Pediatric 25-hydroxyvitamin D concentrationsin neurofibromatosis type 1

Cited by 29 publications

References 35 publications

Neurofibromatosis type 1: from genotype to phenotype

Neurofibromatosis type 1: from genotype to phenotype

Hiding in Plain Sight: A Consideration of NF1-Associated Hypovitaminosis D and its Treatment

Endocrine Problems in Children with Neurofibromatosis Type 1

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