433.2 ๐ ๅ่็๏ผ้ซๅธซๅ่ / PGY OSCE๏ผ
433.2.0.1 ๐ Cram Sheet
433.2.0.1.1 ๐ฅ ้ซ yield 10
- Cystinuria๏ผSLC3A1 / SLC7A9๏ผๅ ญ่งๅฝข็ตๆถ๏ผๆฒป็๏ผ> 4 L waterใ้นผๅ๏ผpH > 7.5๏ผใtiopronin
- Hartnup disease๏ผSLC6A19๏ผไธญๆง AA aminoaciduria๏ผPellagra-like + ataxia๏ผๆฒป๏ผnicotinamide
- Cystinosis๏ผCTNS๏ผlysosomal cystine ็ดฏ็ฉ๏ผFanconi + ๅค้ๅ งๅๆณ็ผบ้ท๏ผๆฒป๏ผcysteamine
- LPI๏ผSLC7A7๏ผdibasic AA basolateral๏ผ้ซ่กๆฐจ๏ผๆฒป๏ผcitrulline ่ฃๅ + ่็ฝ้ๅถ
- Citrin deficiency (CTLN2)๏ผSLC25A13๏ผไบๆดฒๅธธ่ฆ๏ผๅ่้ฃใ้ฟ็ณ๏ผๆฅๆง้ซ่กๆฐจ๏ผๆฒป๏ผ้็ณใ่็งปๆค
- Cystinuria ็ ไบบ 24h urine cystine 2400-7200 ฮผmol/d๏ผๆญฃๅธธ < 250๏ผ
- Cystine ๅจ urine pH < 7.5 ไธๆๆบถ๏ผ> 7.5 ๆบถ่งฃๅบฆๅคงๅข
- Hartnup ไธ D๏ผDermatitisใDiarrheaใDementia/Delirium
- Cystinosis ไธๅ๏ผclassic nephropathic๏ผๆๅด้๏ผใjuvenile nephropathicใocular non-nephropathic
- Citrin deficiency ่ๅ ถไปๅฐฟ็ด ๅพช็ฐ็พ็ ็ๅทฎๅฅ๏ผglutamine ๆญฃๅธธ๏ผๅ ถไป โ๏ผ๏ผgalactose-1-P โ
433.2.0.1.2 ๐ข ๅฟ ่ๆธๅญ
| ้ ็ฎ | ๆธๅญ |
|---|---|
| Cystinuria ็่ก็ | 1/7000 |
| ่ ็ต็ณไธญ cystine ๅ ๆฏ | 1-2% (ๆไบบ); 4-5% (ๅ ็ซฅ) |
| Cystine ้ฃฒๆฐด้ | > 4 L/d๏ผ็ๆณ 5-7 L๏ผ |
| ็ฎๆจ urine cystine | < 1000 ฮผmol/L (250 mg/L) |
| ็ฎๆจ urine pH | > 7.5 |
| Hartnup ็่ก็ | 1/24,000 |
| Hartnup nicotinamide | 50-250 mg/d |
| Cystinosis ็่ก็ | 1/100,000-200,000 |
| Cystinosis ESRD without tx | 10 ๆญฒๅ |
| Cysteamine ็ถญๆๅ้ | 1.3 g/mยฒ /d ๅ 2 ๆฌก |
| LPI Finland ็่ก็ | 1/60,000 |
| LPI citrulline ๅ้ | 2-8 g/d |
| CTLN2 ไบๆดฒ็่ก็ | ~ 1/20,000 |
433.2.0.2 โญ ้ซ yield
433.2.0.2.1 ไธป่ฆ transport defect ่กจ
| ็ | SLC ๅบๅ | Substrate | ่กจ็พ | ๆฒป็ |
|---|---|---|---|---|
| Cystinuria | SLC3A1, SLC7A9 | Cystine + lysine + arg + ornithine | ๅ่ฆ่ ็ต็ณ | ๅๆฐดใ้นผๅใtiopronin |
| Lysinuric protein intolerance | SLC7A7 | Dibasic AA (basolateral) | ้ซ่กๆฐจใosteoporosisใPAP | Citrullineใ่็ฝ้ๅถ |
| Hartnup | SLC6A19 | Neutral AA | Pellagra-like + ataxia | Nicotinamide |
| Cystinosis | CTNS | Lysosomal cystine | Fanconiใๅค้ๅ งๅๆณ | Cysteamine |
| Citrullinemia type 2 | SLC25A13 | Mito aspartate-glutamate | ้ซ่กๆฐจใๅ่้ฃ | ้็ณใ่็งปๆค |
| HHH syndrome | SLC25A15 | Mito ornithine | ้ซ่กๆฐจใhomocitrullinuria | ้่็ฝ + citrulline |
433.2.0.2.2 Cystinuria ๆฒป็้ๆขฏ
- Fluid > 4 L/d๏ผๅๅค่ตทไพๅ๏ผ
- ้นผๅ๏ผpotassium citrate๏ผpH > 7.5
- ๆธ้ + ๆธๅ็ฉๆง่็ฝ
- Tiopronin 800-1200 mg/d ๆ penicillamine 1-3 g/d
- ็ต็ณ็งป้ค๏ผESWL / URS / PCNL
- ๆซๆ๏ผ่ ็งปๆค
433.2.0.2.3 Hartnup ไธ D
- Dermatitis (ๅ ๆดๆฌ้จไฝ)
- Diarrhea
- Dementia / Delirium / cerebellar ataxia
433.2.0.3 ๐ฏ ่ชๆๆชขๆธฌ
- Cystinuria ็ๅๅๅฐฟ้้ AA๏ผ โ Cystine, lysine, arginine, ornithine
- Cystinuria ็ต็ณ็ unique ็ตๆถๅฝข็๏ผ โ ๅ ญ่งๅฝข
- Cystine ๆบถ่งฃๅบฆ็ชๅข็ pH๏ผ โ > 7.5
- Hartnup ไธ D๏ผ โ Dermatitis, diarrhea, dementia/delirium
- Hartnup ่ฃๅ ไป้บผ็ถญไปๅฝ๏ผ โ Nicotinamide
- Cystinosis ๆฒป็่ฅ๏ผ โ Cysteamine bitartrate
- Cystinosis ๆๅด้ๅ็่ ่็็๏ผ โ Renal Fanconi syndrome
- Cystinosis ็บไป้บผๅ งๅๆณ็ง่ฆ่ฟฝ๏ผ โ ๅค้ๅ งๅๆณ็ผบ้ท๏ผ็ฒ็่ บใDMใๆง่ บใ็้ท๏ผ
- LPI ๆฅๆง็ผไฝ็็นๅพตๅฏฆ้ฉๅผ๏ผ โ ้ซ่กๆฐจ + ่็ฝไธ่
- LPI ๆฒป็้้ต่ฅ๏ผ โ Citrulline + ่็ฝ้ๅถ
- Citrin deficiency ้ฃฒ้ฃ็นๅพต๏ผ โ ่ช็ผ้ฟ็ณใๅ่้ฃ
- Citrin deficiency ่ๅ ถไปๅฐฟ็ด ๅพช็ฐ็พ็ ้ๅฅ้้ป๏ผ โ Glutamine ๆญฃๅธธ + galactose-1-P โ
- Bartter vs Gitelman 24h urine Ca๏ผ โ โ vs โ
- Gitelman ๅฐๆๅช็จฎๅฉๅฐฟๅ๏ผ โ Thiazide (SLC12A3 = NCC)
- ใๅคฉ็ถ furosemide ไธญๆฏใๆฏๅชๅ็ ๏ผ โ Bartter
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