• The Journal of the Korean bone and joint tumor society
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• v.10 no.2
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• pp.124-129
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• 2004

The phosphaturic mesenchymal tumor mixed connective tissue variant (PMTMCT) is an extremely rare disease, and is frequently associated with oncogenic osteomalacia showing an paraneoplastic syndrome, which is characterized by phosphaturia, hypophosphatemia, normocalcemia and decreased levels of 1,25-dihydroxyvitamin D3 associated with a tumor. We experienced a 45-year-old female who had a soft tissue tumor on her right buttock causing oncogenic osteomalacia, which was satisfactorily treated by surgical excision of the mass.

• 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.

• 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.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.

• Clinics in Shoulder and Elbow
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• v.12 no.1
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• pp.84-88
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• 2009

Purpose: Calcium pyrophosphate dihydrate crystal deposition disease(CPPD) is a disease of the elderly and extremely rare in young individuals. If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases, such as hemochromatosis, hyperparathyroidism, hypophosphatasia, hypomagnesemia, Wilson's disease, hypothyroidism, and gout. Materials and Methods: Therefore, in young-onset CPPD crystal deposition disease, an investigation of any predisposing metabolic conditions is warranted. Conclusion: We report a case of a young female patient who presented with idiopathic CPPD crystal deposition disease at 25 years of age.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.55-62
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• 2020

A 22-month-old girl who had taken iron supplements due to iron deficiency anemia, presented bloody mucoid stool for one month. She had a bruise at the right periorbital area due to minor trauma and hepatosplenomegaly. Laboratory studies showed anemia, thrombocytopenia, elevated alkaline phosphatase (ALP), hypophosphatemia, decreased haptoglobin, hypocomplementemia, negative direct/indirect Coomb's test, normal vitamin D3 level and high PTHi. Wrist x-ray showed no signs of rickets. The abdominal ultrasound showed only accessory spleen. Tandem mass spectrometry was normal. During follow up, bloody stool regressed after seven days of withdrawal of iron supplement and cow milk, and the total CO2 level had been within 15-20 mEq/L with normal anion gap. NGS (next generation sequencing) panel test for evaluation of renal tubular acidosis showed negative results. After low dose steroid and vitamin D supplements under the impression of hypocomplementemic vasculitis, thrombocytopenia, C3/C4, decreased haptoglobin, and elevated ALP level became normal. At 57 months of age, laboratory findings showed elevated liver enzyme, ALP and gamma-glutamyl transferase again. And liver cirrhosis with splenomegaly and diffuse renal disease were reported with abdomen CT scan. Liver biopsy reported macro- and micronodular cirrhosis. Urine organic acid profile showed elevated succinylacetone level. Whole exome sequencing revealed novel compound heterozygous mutations (NM_00137.2:c.107T>C, NM_00137, 2:c.614T>C) in FAH gene and confirmed by Sanger sequencing. Consequently, the patient was diagnosed as chronic hereditary tyrosinemia type I. She started low phenylalanine/tyrosine diet and nitisinone treatment. Our case had presented symptoms very slowly, which is the first case of chronic tyrosinemia type I in South Korea.