428.2 ๐ ๅ่็๏ผ้ซๅธซๅ่ / PGY OSCE๏ผ
428.2.0.1 ๐ Cram Sheet
428.2.0.1.1 ๐ฅ ้ซ yield 15
- ๅบๅ ๏ผATP7B (chromosome 13) โ autosomal recessive
- ็ ็๏ผ่็ดฐ่้ ๆๆณๅฐ่ฝๆฑๅคฑๆ + ceruloplasmin loading ๅคฑๆ
- ็ผ็ ๅนด้ฝก๏ผ5-35 ๆญฒ่็บไธป๏ผ20-40 ๆญฒ็ฅ็ถ็บไธป๏ผๆๆ็ ไบบ้ฝๆ่็
- ไธ่ฏ๏ผ่็ + ็ฅ็ถ็ฒพ็ฅ + KF ring
- KF ring๏ผ้ ๆฒ็ฉ่ง่ Descemet ่๏ผslit-lamp ็ขบ่จบ๏ผ็ฅ็ถๅ 95%ใ่ๅ 66%
- ็ฏฉๆชขไธ้ ๏ผceruloplasmin๏ผ< 20๏ผ+ 24h urine Cu๏ผ> 100๏ผ+ slit-lamp KF ring
- Wilsonian ALF ๅ ธๅ lab๏ผAST/ALT > 2.2ใALP/bilirubin < 4ใCoombs-negative ๆบถ่กใlow uric acid
- Liver biopsy Cu > 250 ฮผg/g dry weight = gold standard biochemical diagnosis
- Leipzig score โฅ 4 โ ็ขบ่จบ๏ผ็ถๅ่จๅบใ็ๅใๅบๅ ๏ผ
- ็ฌฌไธ็ทๆฒป็๏ผtrientine๏ผ็พไปฃ้ฆ้ธ๏ผๆ penicillamine๏ผๅณ็ตฑ๏ผ
- Maintenance / Presymptomatic / Pregnancy๏ผzinc
- D-penicillamine ๅฏไฝ็จๅค๏ผๆๆใ้ชจ้ซๆๅถใ่ ใSLEใ็ฅ็ถๆกๅ๏ผ๏ผ่ฆๅ B6
- Liver transplant๏ผWilsonian ALF + refractory cirrhosis โ ๆฒป็็ๅ็ผบ้ท
- ็ต่บซๆฒป็๏ผๅ่ฅๅฏ่ด็็ๆง่่กฐ็ซญๆญปไบก
- ้ฟๅ ้ซ้ ้ฃ็ฉ๏ผๅ ง่ใ่ฒ้กใๅทงๅ ๅใๅ ๆใ่
428.2.0.1.2 ๐ข ๅฟ ่
| ้ ็ฎ | ๆธๅญ |
|---|---|
| Ceruloplasmin cutoff | < 20 mg/dL (ๅค < 10) |
| 24h urine Cu cutoff | > 100 ฮผg/24h |
| Non-ceruloplasmin Cu Wilson | > 25 ฮผg/dL (ๆญฃๅธธ < 15) |
| Penicillamine challenge urine Cu | > 1600 ฮผg/24h |
| Liver Cu Wilson | > 250 ฮผg/g dry wt (ๆญฃๅธธ < 50) |
| Leipzig score ็ขบ่จบ | โฅ 4 |
| KF ring ็ฅ็ถๅ | ~95% |
| KF ring ่ๅ | ~66% |
| Penicillamine ๅ้ | 1-1.5 g/d (ๅ 2-4 ๆฌก) |
| Trientine ๅ้ | 750-1500 mg/d (ๅ 2-3 ๆฌก) |
| Zinc ๅ้ | 50 mg elemental Zn TID |
| ๆฒป็ไธ็ฎๆจ urine Cu (chelation) | 200-500 ฮผg/d |
| ๆฒป็ไธ็ฎๆจ urine Cu (zinc) | < 100 ฮผg/d |
| ็่ก็ | 1/7000 ~ 1/30000 |
| ATP7B variants ๅทฒ็ฅ | > 650 |
428.2.0.2 โญ ้ซ yield
428.2.0.2.1 ็ ๅ / ๅบๅ
| ้ ็ฎ | ็ดฐ็ฏ |
|---|---|
| ๅบๅ | ATP7B chr 13 |
| ้บๅณ | AR |
| ๅ่ฝ | (1) Apoโholo ceruloplasmin loading (2) Biliary Cu excretion |
| ๅธธ่ฆ mutation | H1069Q๏ผๆญ๏ผใR778L๏ผไบ๏ผใM645R๏ผๅฐไธญๆตท๏ผ |
| ๅคๆธ | Compound heterozygote |
428.2.0.2.2 ่จๅบ่กจ็พ
| ็ณป็ตฑ | ่กจ็พ |
|---|---|
| ่ | ่็ใcirrhosisใALF๏ผๅ ธๅ lab๏ผ๏ผ |
| ็ฅ็ถ | dysarthriaใwing-beating tremorใdystoniaใparkinsonismใataxiaใmicrographia |
| ็ฒพ็ฅ | personality changeใdepressionใpsychosisใๅญธๆฅญ โ |
| ็ผ | KF ring (slit-lamp)ใsunflower cataract |
| ่ก | Coombs-negative hemolytic anemia |
| ่ | Fanconi syndrome๏ผไฝ uric acid ็ท็ดข๏ผ |
| ้ชจ | osteoporosisใosteomalacia |
428.2.0.2.3 ่จบๆท Algorithm
ๆท็ Wilson
โ
Slit-lamp (KF ring) + serum ceruloplasmin + 24h urine Cu
โ
KF +/ceru โ/urine Cu โ โ ้ซๅบฆๆท็
โ
Brain MRI + ATP7B ๅบๅ + liver biopsy hepatic Cu
โ
Leipzig score๏ผ
โฅ 4 โ ็ขบ่จบ
2-3 โ ้ฒไธๆญฅๆชขๆฅ
โค 1 โ ไธๅคชๅฏ่ฝ428.2.0.2.4 Wilsonian ALF Key Features
| Feature | Value |
|---|---|
| AST/ALT | > 2.2 |
| ALP/bilirubin | < 4 |
| Hemolysis | Coombs-negative |
| Uric acid | ไฝ |
| Ceruloplasmin | ๅฏ่ฝๆฅตไฝ OR ๆฅๆงๆๅฝๆงๅ้ซ |
| Serum Cu | ๆฅต้ซ๏ผๅฃๆญป่็ดฐ่้ๅบ๏ผ |
| 24h urine Cu | ๆฅต้ซ |
| Treatment | Liver transplant๏ผKingโs College Wilson score โฅ 11๏ผ |
428.2.0.2.5 ๆฒป็ๅฟซ่กจ
| ๆ ๅข | ็ฌฌไธ็ท |
|---|---|
| Symptomatic ่ | Trientine๏ผๆ penicillamine + B6๏ผ |
| Symptomatic ็ฅ็ถ | Trientine๏ผ้ฟๅ penicillamine paradoxical worsening๏ผ |
| Presymptomatic | Zinc |
| Maintenance | Zinc ๆ trientine |
| Pregnancy | Zinc๏ผๆๅฎๅ จ๏ผๆๆธ้ chelation |
| ALF | Liver transplant |
| Decompensated cirrhosis ๅฐ่ฅ็กๆ | Liver transplant |
428.2.0.2.6 ่ฅ็ฉๅฏไฝ็จ้่จ
| ่ฅ | ๅฏไฝ็จ้้ป |
|---|---|
| D-Penicillamine | ้ๆใ้ชจ้ซๆๅถใproteinuriaใmembranous nephropathyใSLE-likeใGoodpasture-likeใmyastheniaใ็ฅ็ถๆกๅ๏ผ10-50% ็ฅ็ถๅ๏ผ๏ผ๏ผ่ฆ่ฃ B6 |
| Trientine | sideroblastic anemiaใlupus-like๏ผๅฏไฝ็จ่ผๅฐ |
| Zinc | GI ไธ้ฉใ็ฝ่ฆ Cu ็ผบไน๏ผ็ฉบ่ น / ้ฃ็ฉ้้ |
| TTM | ็ ็ผไธญใๆฅๆง็ฅ็ถๅๆๅชๅข |
428.2.0.2.7 Hemochromatosis vs Wilson๏ผOSCE ๅฟ ่๏ผ
| ็นๅพต | HC | Wilson |
|---|---|---|
| ้ๅฑฌ | ้ต | ้ |
| ๅบๅ | HFE | ATP7B |
| ๅนด้ฝก | 40-60 | 5-35๏ผ่๏ผ๏ผ20-40๏ผ็ฅ็ถ๏ผ |
| ๆงๅฅ | ็ท >> ๅฅณ | ็ทๅฅณ็ธ็ถ |
| ไธป่ฆ่กจ็พ | ่ + DM + ๆง่ บ + ๅฟ + ๅค้ | ่ + ็ฅ็ถ็ฒพ็ฅ + KF ring |
| ็ฏฉๆชข | ferritin + TSat | ceruloplasmin + urine Cu + slit-lamp |
| ็ฌฌไธ็ทๆฒป็ | phlebotomy | chelation (trientine/penicillamine) |
428.2.0.3 ๐ฏ ่ชๆๆชขๆธฌ
- Wilson ๅบๅ ๏ผ โ ATP7B (chr 13)
- ้บๅณๆจกๅผ๏ผ โ Autosomal recessive
- ATP7B ๅ ฉๅๅ่ฝ๏ผ โ ่ผ ceruloplasmin + biliary Cu excretion
- ไธ่ฏ็ฏฉๆชข๏ผ โ ceruloplasmin + 24h urine Cu + slit-lamp (KF ring)
- KF ring ็ฅ็ถๅ / ่ๅ ๏ผ ๏ผ โ 95% / 66%
- ็ขบ่จบๅๆธ๏ผ โ Leipzig โฅ 4
- Liver Cu gold standard cutoff๏ผ โ > 250 ฮผg/g dry weight
- Wilsonian ALF AST/ALT ratio๏ผ โ > 2.2
- Wilsonian ALF ALP/bilirubin ratio๏ผ โ < 4
- Wilsonian ALF ๆบถ่ก้กๅ๏ผ โ Coombs-negative
- Wilsonian ALF uric acid๏ผ โ ไฝ๏ผFanconi๏ผ
- ็ฅ็ถๅๅชๅ ้ธไป้บผ่ฅ๏ผ โ Trientine๏ผ้ฟ penicillamine ็ฅ็ถๆกๅ๏ผ
- Presymptomatic ๆฒป็๏ผ โ Zinc
- Pregnancy ๅฎๅ จ่ฅ๏ผ โ Zinc
- ALF ๆฒป็๏ผ โ Liver transplant
- Penicillamine ่ฆๅ ไป้บผ๏ผ โ Pyridoxine (B6)
- 24h urine Cu ๆถ้ๅฎนๅจ๏ผ โ Acid-washed copper-free
- ๆฒป็ไธ chelation urine Cu ็ฎๆจ๏ผ โ 200-500 ฮผg/d
- ๆฒป็ไธ zinc urine Cu ็ฎๆจ๏ผ โ < 100 ฮผg/d
- ๅฎถๅฑฌ็ฏฉๆชข 4 ้ ๏ผ โ ceruloplasmin + 24h urine Cu + ATP7B + slit-lamp
- ้ซ้ ้ฃ็ฉ 5 ็จฎ๏ผ โ ๅ ง่ใ่ฒ้กใๅทงๅ ๅใๅ ๆใ่
- Wilson ๆๅธธ่ฆไบๆดฒ็ช่ฎ๏ผ โ R778L
- Wilson ๆๅธธ่ฆๆญๆดฒ็ช่ฎ๏ผ โ H1069Q
- ็ ็๏ผๅชๅๅจๅฎๆฏ้ ๆๆณไธป่ฆ้่ทฏ๏ผ โ ่ โ ่ฝๆฑ
- Wilson ่ Parkinsonโs ๅๅฅ๏ผ โ ๅนด่ผ + ่็ + KF ring + ceruloplasmin โ
โ ๏ธ AI ่็จฟใ