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Biomol > Enfermedades Autosomicas Recesivas > Flashcards

Enfermedades Autosomicas Recesivas Flashcards

1
Q

Anemia de células falciformes

A

Alteración en cadena neta de la hemoglobina

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2
Q

Gen afectado en anemia de cel falciformes

A

Gen HBB (11p15.5)

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3
Q

Heterocigotos con anemia de cel f

A

Hipoxia grave

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4
Q

Homocigotos con anemia de cel f

A 
Hipoxia 
Hemolisis crónica 
Necrosis avascular 
Sx torácico agudo 
Sepsis bacteriana 
Secuestro hepático 
Colitis 
Infartos  cerebrales
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5
Q

Tratamiento para la anemia cel f

A

Transfusión sanguínea
Hidroxicarbamida
Vacunación
Transplante cel hematopoyeticas

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6
Q

Albinismo oculocutaneo

A

1 en 35000 recién nacidos

Por enzima tirosinasa

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7
Q

Gen involucrado en albinismo oculocutaneo

A

Gen OCA11 en 11q

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8
Q

Atrofia músculo espinal

A

Degeneración de neuronas motoras espinales bulbares sin compromiso del área congnitiva

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9
Q

Gen involucrado en atrofia músculo espinal

A

Gen SMN en 5q 12.2

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10
Q

Tipos de atrofias musculares

A 
0 prenatal 
1 0-6 meses 
2 menor a 18 meses 
3 mayor a 18 meses 
4 30 años
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11
Q

Tratamiento para atrofia músculo espinal

A

Cuidado multidisciplinario

Evaluación de compromiso respiratorio

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12
Q

Fibrosis quistica

A

Defecto en células epiteliales

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13
Q

Gen afectado en fibrosis quistica

A

Gen CFTR

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14
Q

Cuadro clínico de FQ

A 
Secreciones mucosas viscosas 
Que dañan a pulmón 
Crean obstrucción pacreatica 
Obstrucción intestinal 
Niveles de Cl_ en sudor aumentado
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15
Q

Fenilcetonuria

A

Error innato del metabolismo del aa aromático fenilananina que no es convertido en tirosina por deficiencia de enzima fenilananina hidroxilasa

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16
Q

Incidencia

En México de FC

A

1 en cada 96400

17
Q

Cuadro clínico FC

A 
Retraso mental 
Afección neurológica
Microcefalia 
Piel escamatosa 
Hipopohmentacion en piel y cabello 
Color
Peculiar
18
Q

Tratamiento para FC

A

Disminuir fenilananina

Ser vegetariano

Biomol (3 decks)

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