• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.1
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• pp.116-121
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• 2006

Familial hypophosphatemia is the most common hereditary rickets which occur hypophosphatemia as the calcium concentration in the blood serum is normal but the phosphate concentration in the blood serum decreases by dysfunction of renaltubular phosphorus reabsorption. In spite of the low concentration of phosphate in the blood serum discharge of phosphate by urine and alkaline phosphatase increases remarkably. It is a sex-linked and normally male show severe clinical symptoms than female. This kind of familial hypophosphatemia patients show frontal bossing, square head, short of status for general finding, and for dental finding, thinning of limina dura and dental follicle, thin and hypoplastic enamel, enlarged pulp chamber and canal, high occurance rate of periapical and periodontal abscess and unknown cause of rarefying osteitis. This case is to report about the clinical finging and dental treatment of a child patient, who came to the hospital for treatment of deciduous teeth 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 familial hypophosphatemia.

• Childhood Kidney Diseases
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• v.12 no.1
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• pp.111-115
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• 2008

Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1${\alpha}$-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-$(OH)_2D3$. Type II VDDR arise from target organ resistance to 1,25-$(OH)_2D3$. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.