• 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.

• Tuberculosis and Respiratory Diseases
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• v.62 no.4
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• pp.284-289
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• 2007

Background: To define the clinical features of patients with lung and upper aerodigestive tract cancer through a review of the histopathology, clinical features and follow-up results. Methods: Patients with lung and upper aerodigestive tract cancer who were diagnosed in Young dong Severance Hospital from 1992 to 2005, were retrospectively reviewed. The clinical data, radiologic findings, pathologic findings, treatment modalities were evaluated. Result: There was a total of 20 patients with aerodigestive tract cancer who were diagnosed with lung cancer over a 13 years period. The mean age was $58.45{\pm}15.09$ years and 19 cases were male. There were 14 smokers with an average pack year of 46 years. Twelve patients had aerodigestive tract cancer and later developed lung cancer, and 5 lung cancer patients were later diagnosed with aerodigestive tract cancer. Conclusion: These results suggest that cancers of the aerodigestive tract and lung can arise as either dependent or independent events and most aerodigestive tract cancer patients who developed lung cancer are not treated properly. Therefore, regular low dose chest CT with close suspicion is needed to properly manage upper aerodigestive tract cancer patients.