1. 소화기 내과 R2 박정은 M G R

2. 11107591 한 0 협 (M/11) adm) 05.8.31 Chief complaint known abnormal LFT Present illness 11 세 남자환자로 1 년 전 학교에서 시행한 혈액검사에서 AST/ALT 227/283 U/L 로 높아 본원 외래 방문하여 추적관찰 하였으나 지속 적으로 AST/ALT 68/134 U/L 로 증가되어 further evaluation 위해 입원 Family history 작은 할아버지 : 간경화로 사망 Past medical history unremarkable, drug (-)

3. Review of system Review of system General : fatigue (-) fever /chills (-/-) weight loss (-) Skin : rash (-) itching (-) pigmentation (-) Head / Neck : headache (-) sore thraot (-) Respiratory : cough /sputum (-/-) dyspnea (-) Cardiac : orthopnea (-) chest pain (-) palpitation (-) Gastointestinal : A/N/V/D/C (-/-/-/-/-) melena (-) abdominal pain (-)

4. Review of system Extremity : arthralgia (-) weakness (-) Neurologic : dizziness (-) seizure (-) tremer (-) coordination (-) sensory disturbance (-) Emotional : anxiety (-) mood change (-)

5. Physical examination v/s 90/60 mmHg – 66 / min – 22 /min – 36.2 °C Ht 147 cm Bwt 46 kg BMI 21 General alert mentality not so ill-looking appearance Skin no rash & pigmentation Eye & ENT isocoric pupil with PLR (++/++) whitish sclerae not pale conjunctivae Chest Symmetric chest expansion Clear breathing sound without crackles or wheezing Regular heart beat without murmur

6. Abdomen soft and flat abdomen normoactive bowel sound no hepatosplenomegaly Td/RT(-/-) Back & ExT no CVA Td no pretibial pitting edema Physical examination

7. Lab finding CBC/DC 13700/mm 3 – 13.7 g/dL – 41.4 % - 277,000/mm 3 Seg. 42.8% PT 12.11 C 13.3 (INR 1.00) Chemistry TB/DB 0.4/0.0 mg/dL AST/ALT 73/164 U/L ALP/GGT 269/42 IU/L Prot/Alb 6.8/4.2 g/dL Glucose 99mg/dL BUN/Cr 14/0.5 mg/dL Na/K/Cl 142/4.4/106 mmol/L serum Iron 59 TIBC 325 UA WBC 0~1/HPF RBC 0~1/HPF Protein (-)

9. Viral marker HBs Ag/anti- HBs Ab/Anti-HBc Ab (-/-/-) Anti – HCV (-) Serum ceruloplasmin 2.17 mg/dL (20~60)

10. Ultrasonography

11. Impression Chronic hepatitis R/O Wilson’s disease

12. Plan 24 hours urine Cu level Serum Cu level Liver biopsy Consult to OPH for Kayser-Fleischer ring DNA analysis for ATP7B gene

13. Results 24 hours urine Cu 128 μ g/day (38~70) 24 hours urine Cr 697 mg/day Serum Cu 16 μ g/dL (70~130) OPH consult negative for KF rings

14. Liver biopsy result

15. 의학유전학 검사 결과 Wilson’s disease major mutation (ATP7B gene) Pph. Blood PCR CAGTGTAATTGNGGGTCTATAAAT C.2621C>T P.A874V Result : p. A874V heterozygote of ATP7B gene

16. Final diagnosis Wilson’s disease

17. Treatment plan Journal of Hepatology 42 (2005) S13–S21

18. Treatment plan Journal of Hepatology 42 (2005) S13–S21 Non - ceruloplasmin (Cp) Cu plasma Cp 2.17 mg/dL x 3 μg/dL = 6.5 μ g/dL plasma Cu 16 μ g/dL – 6.5 = 9.5 μg/dL normal 10-15, untreated 30-50, effective treated <25

19. Initial treatment Penicillamine 500 mg bid Pyridoxine 25 mg qd The side effects of penicillamine Acute or subacute Hypersensitivity BM suppression proteinuria Chronic Autoimmune disease (SLE, Goodpasture’s syndrome) Immune suppression (risk of infection) Skin wrinkling Neurologic worsening

20. Clinical course penicillamine Trientine 250 mg tid hypersensitivity : Skin rash Headache nausea