• Childhood Kidney Diseases
• /
• v.3 no.2
• /
• pp.237-240
• /
• 1999

The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. In addition to the described in McCune-Albright syndrome, other endocrinopathies have been reported including hyperthyroidism, acromegaly, Cushing syndrome and vitamin D resistant rickets. The case describes a 6-year-old boy showing bony deformities due to polyostotic fibrous dysplasia, hyperpigmented skin macules, hyperthyroidism and vitamin D resistant rickets. The purpose of this report is to describe a patient of McCune-Albright syndrome with vitamin D resistant rickets which is very rare.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.6 no.1
• /
• pp.10-14
• /
• 2010

Vitamin D-resistant rickets(VDRR) is hereditary disease manifesting marked hypophosphatemia caused by renal tubular loss of phosphate into urine and an associated decrease in the calcium and phosphorous ion product. VDRR is identified by clinical symptoms, such as in the limbs, gait disturbance, dwarfism, familial occurrence, bowlegs, and knock-knees, as well as by laboratory findings. Dental findings are enlarged chambers and extension of the pulp horns into the cusp tips in both the primary and the permanent dentition in contrast to the vitamin D-deficient rickets. The major oral manifestations are multiple spontaneous abscesses in a caries-free dentition. We reported the clinical features and treatment of a 6-year-old boy with vitamin D-resistant rickets referred to the department of pediatric dentistry in Kyung Hee University for multiple spontaneous periapical abscesses and gingival fistula without severe dental caries.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.32 no.1
• /
• pp.152-157
• /
• 2005

Hypophosphatemia rickets, also known as Vitamin D-resistant rickets(VDRR) and refractory rickets, is a form of rickets which is resistant to the usual doses of vitamin D. VDRR is characterized by decreased renal tubular reabsorption of inorganic phosphate and is easily diagnosed by a normal blood calcium, hypophosphatemia, and slightly elevated alkaline phosphatase. Clinical features of Hypophosphatemia rickets included lateral bowing deformities of the legs, short stature, scoliosis, and enlargement of wrist and ankles. Dental finding in patient with VDRR were spontaneous dental abscesses in caries free teeth and other dental findings included delayed eruption, delayed apical closure, thin and hypoplastic enamel, absent or poorly defined lamina dura, enlarged pulp chambers, and numerous accessory canals and pulp horns that extend up and into the dentinoenamel junction. we reported the clinical feature and treatment of VDRR child who was referred from the department of pediatrics for early loss of primary teeth and its treatment.

• Clinical and Experimental Pediatrics
• /
• v.48 no.6
• /
• pp.665-668
• /
• 2005

"Rickets" is the term applied to impaired mineralization at epiphyseal growth plate, resulting in deformity and impaired linear growth of long bones. Rickets may arise as a result of vitamin D deficiency or abnormality in metabolism. Vitamin D-dependent rickets(VDDR) is rare autosomal recessive disorder in which affected individuals have clinical features of vitamin D deficiency. In 1961, Prader first described this disorder including severe clinical features of rickets, such as hypophosphatemia, hypocalcemia, muscle weakness and seizure. Two distinctive hereditary defects, type I VDDR and type II VDDR have been recognized in vitamin D metabolism. Type I VDDR may be due to congenital defects of renal 1 ${\alpha}$-hydroxylase, the enzyme responsible for conversion of $25(OH)D_3$. These patients have low to detectable $1,25(OH)_2D_3$ in presence of normal to raised $25(OH)D_3$. In type II VDDR, renal production of $1,25(OH)_2D_3$ is intact but $1,25(OH)_2D_3$ is not used effectively and target organ resistant to $1,25(OH)_2D_3$ is respectively derived from the abnormality in the vitamin D receptor. We report a case of a 25 month-old girl with typical clinical features of VDDR type I rickets, hypocalcemia, increased alkaline phosphatase and secondary hyperparathyroidism.

• Animal Bioscience
• /
• v.34 no.2
• /
• pp.276-284
• /
• 2021

Objective: The objective of this study was to determine whether a dietary vitamin E (VE) supplement could alleviate any detrimental effects of aged corn on lipid metabolism and antioxidant status in laying hens. Methods: The experiment consisted of a 2×3 factorial design with two corn types (normal corn and aged corn (stored for 4 yr) and three concentrations of VE (0, 20, and 100 IU/kg). A total of 216 Lohmann laying hens (50 wk of age) were randomly allocated into six treatment diets for 12 wk. Each treatment had 6 replicates of 6 hens per replicate. Results: The results show that aged corn significantly decreased the content of low-density lipoprotein cholesterol (p<0.05), and reduced chemokine-like receptor 1 (CMKLR1) mRNA expression (p<0.05) in the liver compared to controls. Diet with VE did not alter the content of crude fat and cholesterol (p>0.05), or acetyl-CoA carboxylase, lipoprotein lipase, fatty acid synthase or CMKLR1 mRNA expression (p>0.05) in the liver among treatment groups. Aged corn significantly increased the content of malondialdehyde (MDA) (p<0.05) and decreased superoxide dismutase (SOD) activity (p<0.05) in the liver. The VE increased the content of MDA (p<0.05) but decreased glutathione peroxidase (GSH-Px) activity in serum (p<0.01) and in the ovaries (p<0.05). Adding VE at 20 and 100 IU/kg significantly increased GSH-Px activity (p<0.05) in liver and in serum (p<0.01), 100 IU/kg VE significantly increased SOD activity (p<0.05) in serum. Aged corn had no significant effects on GSH-Px mRNA or SOD mRNA expression (p<0.01) in the liver and ovaries. Addition of 100 IU/kg VE could significantly increase SOD mRNA expression (p<0.01) in the liver and ovary. Conclusion: Aged corn affected lipid metabolism and decreased the antioxidant function of laying hens. Dietary VE supplementation was unable to counteract the negative effects of aged corn on lipid metabolism. However, addition of 100 IU/kg VE prevented aged corninduced lipid peroxidation in the organs of laying hens.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.36 no.2
• /
• pp.298-304
• /
• 2009

XLH (X-linked hypophosphatemic rickets) is a form of rickets which is resistant to the usual dose of vitamin D and inherited in a X-linked dominant manner. It is also known as vitamin D-resistant rickets or familial hypophosphatemic rickets. Here we report a 6-year-and-6-month-old female patient of XLH who is diagnosed with in SNUB. She was referred from local clinic for impaction of maxillary left permanent incisor and its treatment. She presents bowing deformities of the legs, short stature, enlargement of wrist and ankles and spontaneous dental abscesses of clinically sound teeth delayed eruption, taurodontism, delayed apical closure, enlarged pulp chambers, and absent or poorly defined lamina dura. The purpose of this case is to review the literatures of XLH and report the dental and medical characteristics of this patient.

• Journal of Nutrition and Health
• /
• v.46 no.3
• /
• pp.239-249
• /
• 2013

Subclinical vitamin $B_{12}$ deficiency is common in the elderly worldwide. We investigated the change of serum vitamin $B_{12}$ concentration with aging and compared anthropometric data and clinical health indicators between normal (${\geq}$ 340 pg/mL) and low (< 340 pg/mL) serum vitamin $B_{12}$ groups in 470 Korean women aged 65 years and over living in a rural area. Serum vitamin $B_{12}$ concentration showed inverse correlation with age (r = -0.0992, p < 0.05). The normal $B_{12}$ group showed significantly (p < 0.05) higher red blood cell count, hemoglobin, and hematocrit compared to the low $B_{12}$ group, however, no difference in mean corpuscular volume was observed between the two groups. The normal $B_{12}$ group showed significantly lower serum homocysteine concentration (p < 0.01) and prevalence of vitamin D (p < 0.01) or folate deficiency (p < 0.001). Bone mineral density (T-score) was significantly higher (p < 0.05) in the normal $B_{12}$ group, compared with that in the low $B_{12}$ group, and showed positive correlation (r = 0.1490, p < 0.01) with serum vitamin $B_{12}$ concentration after adjusting for age, body weight, and body mass index. No differences in anthropometric data, physical activity, and smoking and drinking habits were observed between the two groups. In conclusion, it could be suggested that older female adults with normal serum vitamin $B_{12}$ level would be less anemic and osteoporotic and more resistant to hyperhomocysteinemia associated chronic diseases than those with low serum vitamin $B_{12}$ level.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.27 no.1
• /
• pp.108-112
• /
• 2000

Hypophosphatemic rickets is lack of reponse to physiologic doses of vitamin D, different from the vitamin D-dependent rickets. It is inherited in an X-linked dominant fashion. The prime features of this disorder are lowered serum phosphate levels, elevated serum alkaline phosphatase and normal serum calcium levels. The dental manifestation often include apical radiolucencies, abscess and fistulas of clinically sound teeth. Dental radiographs show ricketic bone trabeculations, abscent or abnormal lamina dura and abnormal cementum. This case which was diagnosed to hypophosphatemic rickets, showed multiple spontaneous periapical abscess and gingival fistula enlarged pulp chambers, extension of the pulp horns into the cusp tips and delayed eruption.

• Childhood Kidney Diseases
• /
• v.25 no.2
• /
• pp.92-111
• /
• 2021

Purpose: Nephrotic syndrome (NS) is the most common form of glomerulopathy in children. Most pediatric patients respond to glucocorticosteroid treatment (steroid-sensitive NS, SSNS), while approximately 10-15% will remain unresponsive or later become steroid-resistant. There has been a long-standing effort to find biomarkers that may predict steroid responsiveness. Methods: We systematically reviewed current studies which investigated clinically relevant biomarkers for predicting steroid responsiveness in pediatric NS. We performed a PubMed and EMBASE search to identify eligible articles. We collected data on urinary markers, blood/serum markers (including cellular phenotypes and mRNA expression), genotypes and HLA allele frequency. Results: A total of 659 articles were identified following electronic and manual searches. After reviewing the titles, abstracts, and full texts, 72 eligible articles were finally included. Vitamin D-binding protein (VDBP) seemed to be significantly elevated in SRNS than in SSNS, in both serum and urine specimen, although further validation is required. Conclusions: The present paper narratively illustrates current understandings of potential biomarkers that may help predict steroid responsiveness. Further investigation and collaboration involving a larger number of patients are necessary.

• International Journal of Oral Biology
• /
• v.30 no.1
• /
• pp.23-30
• /
• 2005

Bone remodeling is a process controlled by the action of two major bone cells; the bone forming osteoblast and the bone resorbing osteoclast. In the process of osteoclastogenesis, stromal cells and osteoblast produce RANKL, OPG, and M-CSF, which in turn regulate the osteoclastogenesis. During the bone resorption by activated osteoclasts, extracellular $Ca^{2+}/{PO_4}^{2-}$ concentration and degraded organic materials goes up, providing the hypertonic microenvironment. In this study, we tested the effects of hypertonicity due to the degraded organic materials on osteoclastogenesis in co-culture system. It was examined the cellular response of osteoblastic cell in terms of osteoclastogenesis by applying the sucrose, and mannitol, as a substitute of degraded organic materials to co-culture system. Apart from the sucrose, mannitol, and NaCl was tested to be compared to the effect of organic osmotic particles. The addition of sucrose and mannitol (25, 50, 100, 150, or 200 mM) to co-culture medium inhibited the number of tartrate-resistant acid phosphatase (TRAP) positive multinucleated cells induced by 10 nM $1{\alpha},25(OH)_2vitaminD_3$ ($1{\alpha},25(OH)_2D_3$). However, NaCl did exert harmful effect upon the cells in this co-culture system, which is attributed to DNA damage in high concentration of NaCl. To further investigate the mechanism by which hypertonicity inhibits $1{\alpha},25(OH)_2D_3$-induced osteoclastogenesis, the mRNA expressions of receptor activator of nuclear factor (NF)-kB ligand (RANKL) and osteoprotegerin (OPG) were monitored by RT-PCR. In the presence of sucrose (50 mM), RANKL mRNA expression was decreased in a dose-dependent manner, while the change in OPG and M-CSF mRNA were not occurred in significantly. The RANKL mRNA expression was inhibited for 48 hours in the presence of sucrose (50 mM), but such a decrement recovered after 72 hours. However, there were no considerable changes in the expression of OPG and M-CSF mRNA. Conclusively, these findings strongly suggest that hypertonic stress down-regulates $1{\alpha},25(OH)_2D_3$-induced osteoclastogenesis via RANKL signal pathway in osteoblastic cell, and may playa pivotal role as a regulator that modulates osteoclastogenesis.