Cursul 19-Profilaxia bolilor genetice
Cursul 19-Profilaxia bolilor genetice
Cursul 19-Profilaxia bolilor genetice
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Screening-ul neonatal in PKU<br />
• Incidenta: 1/10000-1/13000nn<br />
• Deficit de PAH<br />
• AR<br />
• Netratata-> 95% retard mental sever<br />
• Test Guthrie- varsta de 2-3 zile=picaturi de<br />
sange pe hartie de filtru speciala+ Bacillus<br />
subtillis<br />
• Dozarea fenilalaninei (>20mg/dl) si a tirozinei<br />
din plasma;<br />
• sensibilitate:95%; specificitate:100%.<br />
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