No abstract available.
Osteomalacia* ; Primary Myelofibrosis* ; Vitamin D Deficiency*

Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.
Hypophosphatemia ; Osteomalacia ; FGF23 ; Vitamin D Deficiency

Objective. We aim to study the prevalence and risk factors of hypovitaminosis D among healthy adolescents in Kota Bharu, Kelantan based on the most recent Paediatric Consensus guideline. Methodology. Ten public schools were selected from Kota Bharu, Kelantan. We analysed their demography (age, gender, ethnicity, income), measured their anthropometry (height, weight, BMI) and finally analysed their vitamin D and intact- Parathyroid hormone levels. Results. The prevalence of hypovitaminosis D was 16.9% among healthy teenagers with mean age of 15.9±1.39 years. Multivariate analysis showed female gender (adjusted OR, 95% CI): 23.7 (5.64, 100.3) and Chinese 0.24 (0.07, 0.84) were the significant predictors for hypovitaminosis D. Conclusion. The prevalence of healthy adolescents with hypovitaminosis D in Kota Bharu, Kelantan was 16.9% using the most recent cut off value of 30 nmol/L from the global consensus 2016. Female and Malay were the significant risk factors associated with hypovitaminosis D. Higher cut off value would result in overestimation of prevalence rate of hypovitaminosis D.
Vitamin D Deficiency ; Rickets ; adolescents

Dilated cardiomyopathy, which mostly has an idiopathic etiology or is caused by genetic inheritance or infection, can cause irreversible congestive heart failure. Hypocalcemia is a rare etiology of reversible dilated cardiomyopathy. Here we report the case of a two-month-old girl with congestive heart failure who was diagnosed as having dilated cardiomyopathy secondary to hypocalcemia. After calcium and vitamin D replacement therapy, the patient showed a rapid reduction in hypocalcemic tetany and a rapid recovery of left ventricular function. The cause of the hypocalcemia was vitamin D deficient rickets. She was exclusively breast-fed as an infant, and her mother had a vitamin D deficiency and was diagnosed with osteomalacia.
Calcium ; Cardiomyopathy, Dilated ; Heart Failure ; Humans ; Hypocalcemia ; Infant ; Mothers ; Osteomalacia ; Rickets ; Tetany ; Ventricular Function, Left ; Vitamin D ; Vitamin D Deficiency ; Vitamins ; Wills

Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by hypophosphatemia resulting from decreased tubular phosphate reabsorption, with a low or inappropriately normal level of active vitamin D. The culprit tumors of TIO could produce fibroblast growth factor 23 which plays a role in regulating renal Pi handling and 25-hydroxyvitamin D 1α-hydroxylase activity. Chronic hypophosphatemia could eventually lead to inadequate bone mineralization, presenting as osteomalacia. The diagnosis should be considered when patients manifest as hypophosphatemia and osteomalacia, or rickets and needs to be differentiated from other disorders of phosphate metabolism, such as the inhereditary diseases like X-linked hypophosphataemic rickets, autosomal dominant hypophosphataemic rickets, autosomal recessive hypophosphataemic rickets and acquired diseases like vitamin D deficiency. Localization of responsible tumors could be rather difficult since the vast majority are very small and could be everywhere in the body. A combination of thorough physical examination, laboratory tests and imaging techniques should be applied and sometimes a venous sampling may come into handy. The technology of somatostatin-receptor functional scintigraphy markedly facilitates the localization of TIO tumor. Patients undergoing complete removal of the causative neoplasm generally have favorable prognoses while a few have been reported to suffer from recurrence and metastasis. For those undetectable or unresectable cases, phosphate supplements and active vitamin D should be administrated and curative intended radiotherapy or ablation is optional.
Calcification, Physiologic ; Diagnosis ; Fibroblast Growth Factors ; Humans ; Hypophosphatemia ; Metabolism ; Neoplasm Metastasis ; Osteomalacia ; Paraneoplastic Syndromes ; Physical Examination ; Prognosis ; Radionuclide Imaging ; Radiotherapy ; Recurrence ; Rickets ; Vitamin D ; Vitamin D Deficiency

Alopecia areata (AA) is an inflammatory hair loss of unknown etiology. AA is chronic and relapsing, and no effective cure or preventive treatment has been established. Vitamin D was recently reported to be important in cutaneous immune modulation as well as calcium regulation and bone metabolism. It is well known that areata is common clinical finding in patients with vitamin D deficiency, vitamin D-resistant rickets, or vitamin D receptor (VDR) mutation. The biological actions of vitamin D3 derivatives include regulation of epidermal cell proliferation and differentiation and modulation of cytokine production. These effects might explain the efficacy of vitamin D3 derivatives for treating AA. In this study, we report a 7-year-old boy with reduced VDR expression in AA, recovery of whom was observed by topical application of calcipotriol, a strong vitamin D analog.
Alopecia ; Alopecia Areata ; Calcitriol ; Calcium ; Cell Proliferation ; Child ; Cholecalciferol ; Hair ; Humans ; Hypophosphatemic Rickets, X-Linked Dominant ; Receptors, Calcitriol ; Vitamin D ; Vitamin D Deficiency

In this report, we describe the case of a healthy 37-year-old male patient without a history of disease, who developed atraumatic bilateral fracture of the femoral neck. Radiological and blood investigations revealed osteopenia and severe vitamin D deficiency (7.42 ng/mL), respectively, but patient had no apparent risk factors for insufficiency fracture. Bilateral osteosynthesis was obtained using cannulated screws and laboratory findings improved after vitamin D supplementation. This case highlights the effect of vitamin D deficiency on demineralization in a young male patient.
Adult ; Bone Diseases, Metabolic ; Femur Neck* ; Fractures, Stress ; Humans ; Male* ; Osteomalacia* ; Risk Factors ; Vitamin D ; Vitamin D Deficiency

Vitamin D is an important fat-soluble vitamin that functions as a prohormone and affects bone mineralization and calcium homeostasis. Vitamin D deficiency causesboth musculoskeletal manifestations, including rickets, and extra-musculoskeletal symptoms. Because vitamin D is naturally present in only some foods, intake of daily foods cannot meet the dietary reference intake for vitamin D. Sunlight is the main source of vitamin D in humans therefore, the lack of sunlight can easily cause vitamin D deficiency in children and adolescents. Vitamin D deficiency can be diagnosed on the basis ofits typical clinical manifestation, laboratory tests, and radiologic findings. Detection of vitamin D deficiency in children or adolescents necessitates the simultaneous administration of vitamin D and calcium supplements. To prevent vitamin D deficiency, 200 IU of daily vitamin D intake is recommended in infants, and 400 IU of daily vitamin D intake is recommended in Korean children and adolescents.
Adolescent ; Calcification, Physiologic ; Calcium ; Child ; Homeostasis ; Humans ; Infant ; Rickets ; Sunlight ; Vitamin D ; Vitamin D Deficiency ; Vitamins

Vitamin D deficiency cause rickets, metabolic disorder of growing bone resulting in bony deformities. Rickets is characterized by formation of collagen and osteoid with defective mineralization. We had experienced ??severe case of Vitamin D deficiency Rickets. He was a boy of 23month at age, fed with gruel only for 6month. Physical, biochemical and radiological finding & therapeutic procedure were presented, Literatre review was made briefly.
Collagen ; Congenital Abnormalities ; Humans ; Male ; Rickets ; Vitamin D Deficiency* ; Vitamin D* ; Vitamins*

Vitamin D deficiency cause rickets, metabolic disorder of growing bone resulting in bony deformities. Rickets is characterized by formation of collagen and osteoid with defective mineralization. We had experienced ??severe case of Vitamin D deficiency Rickets. He was a boy of 23month at age, fed with gruel only for 6month. Physical, biochemical and radiological finding & therapeutic procedure were presented, Literatre review was made briefly.
Collagen ; Congenital Abnormalities ; Humans ; Male ; Rickets ; Vitamin D Deficiency* ; Vitamin D* ; Vitamins*