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

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

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

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

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.2
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• pp.298-304
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• 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 the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.108-112
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• 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
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• v.8 no.2
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• pp.195-204
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• 2004

Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.1
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• pp.14-18
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• 2017

X-linked dominant hypophosphataemic rickets(XLHR) is a hereditary disease generally transmitted as an X-linked dominant trait. Oral manifestations include poorly mineralized dentin, enlarged pulp chambers and root canals, early tooth loss. Also, spontaneous dental abscesses could occur in the absence of a history of trauma or caries. This report describes the clinical finding and dental treatment of a child, who came to the hospital for treatment caries but was refered to pediatrics because the child showed clinically short of status, bow-leg and radiographically enlarged pulp chamber and canal, there as diagnosed as XLHR. After the diagnosis, 13 years follow-up and treatment were performed.