scholarly journals Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets

2005 ◽  
Vol 5 ◽  
pp. 868-873 ◽  
Author(s):  
Mauro M.S. Borghi ◽  
Veronica Coates ◽  
Hatim A. Omar
Keyword(s):  
Growth Hormone ◽  
Vitamin D ◽  
Early Diagnosis ◽  
Vitamin D Deficiency ◽  
Hypophosphatemic Rickets ◽  
Childhood And Adolescence ◽  
Research Reporting ◽  
Bibliographic Search ◽  
Familial Hypophosphatemia ◽  
Final Stature

This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possible future therapeutic proposals. It is concluded that the most significant fact in the treatment of familial hypophosphatemic rickets in infancy was the magnitude of the final stature. The use of growth hormone can be helpful in these patients. However, research reporting treatments with the use of the growth hormone for rickets are controversial. The majority of the authors agree that treatment using vitamin D and phosphate enables some statural growth in cases of early diagnosis, reflecting a better prognosis.

scholarly journals Possible Health Implications and Low Vitamin D Status during Childhood and Adolescence: An Updated Mini Review

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Dimitrios Papandreou ◽  
Pavlos Malindretos ◽  
Zacharoula Karabouta ◽  
Israel Rousso
Keyword(s):  
Cardiovascular Disease ◽  
Vitamin D ◽  
Developing Countries ◽  
Life Span ◽  
Vitamin D Deficiency ◽  
Chronic Diseases ◽  
Adult Life ◽  
Childhood And Adolescence ◽  
Vitamin D Status ◽  
Calcium Insufficiency

Vitamin D deficiency is common in the developing countries and exists in both childhood and adult life. The great importance of Vitamin D is the moderation of calcium (Ca) and phosphorus (P) homeostasis as well as the absorption of Ca. While insufficiency of vitamin D is a significant contributing factor to risk of rickets in childhood, it is possible that a more marginal deficiency of vitamin D during life span contribute to osteoporosis as well as potentially to the development and various other chronic diseases such as cardiovascular disease, cancer and diabetes. This paper reviews the metabolism, epidemiology, and treatment of vitamin D and calcium insufficiency as well as its relation to various diseases during childhood and adolescence.

scholarly journals Effect of vitamin D deficiency on depressive symptoms in child and adolescent psychiatric patients: results of a randomized controlled trial

2020 ◽  
Vol 59 (8) ◽  
pp. 3415-3424
Author(s):  
Lars Libuda ◽  
Nina Timmesfeld ◽  
Jochen Antel ◽  
Raphael Hirtz ◽  
Jens Bauer ◽  
...  
Keyword(s):  
Vitamin D ◽  
Depressive Symptoms ◽  
Children And Adolescents ◽  
Vitamin D Deficiency ◽  
Primary Outcome ◽  
Psychiatric Treatment ◽  
Childhood And Adolescence ◽  
Parent Rating ◽  
Randomized Controlled ◽  
Vitamin D Levels

Abstract Purpose While observational studies revealed inverse associations between serum vitamin D levels [25(OH)D] and depression, randomized controlled trials (RCT) in children and adolescents are lacking. This RCT examined the effect of an untreated vitamin D deficiency compared to an immediate vitamin D3 supplementation on depression scores in children and adolescents during standard day and in-patient psychiatric treatment. Methods Patients with vitamin D deficiency [25(OH)D ≤ 30 nmol/l] and at least mild depression [Beck Depression Inventory II (BDI-II) > 13] (n = 113) were 1:1 randomized into verum (VG; 2640 IU vitamin D3/d) or placebo group (PG) in a double-blind manner. During the intervention period of 28 days, both groups additionally received treatment as usual. BDI-II scores were assessed as primary outcome, DISYPS-II (Diagnostic System for Mental Disorders in Childhood and Adolescence, Self- and Parent Rating) and serum total 25(OH)D were secondary outcomes. Results At admission, 49.3% of the screened patients (n = 280) had vitamin D deficiency. Although the intervention led to a higher increase of 25(OH)D levels in the VG than in the PG (treatment difference: + 14 ng/ml; 95% CI 4.86–23.77; p = 0.003), the change in BDI-II scores did not differ (+ 1.3; 95% CI − 2.22 to 4.81; p = 0.466). In contrast, DISYPS parental ratings revealed pronounced improvements of depressive symptoms in the VG (− 0.68; 95% CI − 1.23 to − 0.13; p = 0.016). Conclusion Whereas this study failed to show a vitamin D supplementation effect on self-rated depression in adolescent in- or daycare patients, parents reported less depressive symptoms in VG at the end of our study. Future trials should consider clinician-rated depressive symptoms as primary outcome. Trial registration “German Clinical Trials Register” (https://www.drks.de), registration number: DRKS00009758

scholarly journals SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ahmed Badran ◽  
Renee Bargman
Keyword(s):  
Vitamin D ◽  
Growth Factor ◽  
Vitamin D Deficiency ◽  
Fibroblast Growth Factor ◽  
Gene Mutation ◽  
De Novo ◽  
Fibroblast Growth Factor 23 ◽  
Hypophosphatemic Rickets ◽  
Fibroblast Growth ◽  
Phex Gene

Abstract Introduction Rickets is a condition that can affect bones of infants and children. It is characterized by growth plate demineralization and can occur secondary to, most commonly, vitamin D deficiency or various problems with vitamin D, Calcium or Phosphate metabolism. Hypophosphatemic rickets (HR) is a type of rickets that is inherited by X linked dominant pattern mainly however it can be also inherited by autosomal dominant and recessive patterns in rare cases. X linked dominant type (XLH) affects about 1 in 20,000 newborns. Each of the other hereditary forms of HR has been identified in only a few families. Clinical features of XLH is similar to other types of rickets including metaphyseal widening, palpable rachitic rosaries, frontal prominence, malformation of the horizontal depression along the lower border of the chest, insufficient weight gain and leg bowing. Case presentation: A 10-month-old infant presented to endocrinology with vitamin D deficiency, low serum phosphorus and hyperparathyroidism. Physical examination showed macrocephaly with frontal bossing, widening of the wrists and rachitic rosaries. His lab results showed low 25 OH vitamin D (11 ng/ml) (N:20-50 ng/ml), low phosphorus (PO4) (3.3 mg/dl) (N:4-6.5 mg/dl), high PTH (113 pg/ml) (N: 20-65pg/ml), high alkaline phosphatase (ALP) (836 IU/L) (N: 135-518 IU/L) and normal calcium (Ca2+) (9.6 mg/dl) (N:9-11 mg/dl). Vitamin D treatment was started however his follow up lab results showed persistent hypophosphatemia for age (2.8mg/dl) and elevated ALP (600IU/l) despite normalization of vitamin D (38 ng/ml). Additional lab tests were done showing high PO4 excretion (19.5 mg/dl)(N:1:3.5 mg/dl), Ca/Cr ratio 0.005 (N <0.14), inappropriately normal FGF23 level (129 RU/ml) (N: >124 RU/mL). Genetic testing showed de novo mutation in PHEX gene (871C>T) which is consistent with XLH. PHEX gene mutation is the most common mutation associated with XLH. Normally this gene can directly or indirectly regulate a protein called fibroblast growth factor 23 (produced from FGF23 gene). This protein normally inhibits renal reabsorption of phosphate into the bloodstream. Gene mutations increase the production or reduce the breakdown of fibroblast growth factor 23 leading to an overactivation of this protein and reduction of phosphate reabsorption by the kidneys, resulting in hypophosphatemia. The patient was maintained on Burosomab (0.4 mg/kg biweekly); a recombinant human monoclonal antibody (IgG1) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23) and increases the phosphate reabsorption in the renal tubules. Conclusion: XLH due to PHEX gene mutation should be considered in rachitic children who have persistently low phosphate levels despite treating vitamin D deficiency.

scholarly journals Dental manifestations of the hypophosphatemic rickets: A case report

2020 ◽  
Vol 67 (2) ◽  
pp. 110-114
Author(s):  
Jelena Popovic ◽  
Marija Nikolic ◽  
Radomir Barac ◽  
Nenad Stosic ◽  
Milena Kostic ◽  
...  
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Vitamin D Deficiency ◽  
Bone Mineralization ◽  
Serum Phosphate ◽  
Hypophosphatemic Rickets ◽  
Growth Disorders ◽  
Radiological Evaluation ◽  
Skeletal Deformity ◽  
Radiological Images

Rickets is a disorder of bone mineralization in children?s skeleton. It is most often associated with vitamin D deficiency, however, it can also occur due to a decrease in serum phosphate levels, which leads to inadequate tissue mineralization, with consequent skeletal deformity and growth disorders. Patients with hypophosphatemic rickets show teeth changes at the morphological and histological level, as well as on radiological images. The aim of this study was to perform clinical and radiological evaluation of dental manifestations of hypophosphatemic rickets in a four-year-old boy, as well as to point out the necessity of including a dentist in the treatment of this disease in order to prevent oral complications.

scholarly journals Concentration levels of serum 25-Hydroxyvitamin-D and vitamin D deficiency among children and adolescents of India: a descriptive cross-sectional study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Akif Mustafa ◽  
Chander Shekhar
Keyword(s):  
Vitamin D ◽  
Children And Adolescents ◽  
Vitamin D Deficiency ◽  
Age Groups ◽  
Well Being ◽  
Childhood And Adolescence ◽  
Indian Children ◽  
Hydroxyvitamin D ◽  
Vitamin D Levels ◽  
25 Hydroxyvitamin D

Abstract Background Vitamin D is an essential micronutrient for the overall health and well-being of individuals. For strong musculoskeletal and neurological development of human body, vitamin D levels during childhood and adolescence have key importance. This is the first national-level study that analyzes the deficiency and concentration of serum 25-Hydroxyvitamin D [25(OH)D)] among Indian children and adolescents with respect to various demographic and socioeconomic characteristics. Methods Data of Comprehensive National Nutrition Survey (CNNS, 2016–18) was utilized for the present study. Vitamin D levels were assessed based on serum 25-hydroxyvitamin D concentration. Prevalence of vitamin D deficiency has been shown for the three age groups: 0–4 years (n = 12,764), 5–9 years (n = 13,482), 10–19 years (n = 13,065). Vitamin D deficiency was defined as: serum 25(OH)D < 12 ng/mL; and insufficiency as: 12 ng/ml ≤ 25(OH) < 20 ng/ml. 25(OH) D level higher than 20 ng/mL was accepted as adequate. Random slope multilevel logistic regression models were employed to assess the demographic and socioeconomic correlates of vitamin D deficiency. Results Mean serum 25(OH)D concentration level was found to be 19.51 ± 8.76, 17.73 ± 7.91, and 17.07 ± 8.16 ng/ml in age group 0–4 years, 5–9 years and 10–19 years respectively. 49.12% of the children aged 0–4 years were having insufficient level of vitamin D. Prevalence of vitamin D deficiency was comparatively higher among female adolescents (76.16%), adolescents living in rural region (67.48), Sikh individuals (0–4 years: 76.28%; 5–9 years: 90.26%; 10–19 years: 89.56%), and adolescents coming from rich households. North-Indian individuals were having substantially higher odds of vitamin D deficiency in all the three age groups. Conclusion The present study demonstrated that the prevalence of vitamin D deficiency is considerably high among children and adolescents of India. The study highlights high-risk group which require prompt policy interventions.

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