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Pediatria 🧸 > Fibrosis Quistica > Flashcards

Fibrosis Quistica Flashcards

1
Q

Herencia de la fibrosis quistica

A

Autonomía recesiva

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2
Q

Principal causa de enfermedad pulmonar grave

A

Fibrosis quistica

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3
Q

Origen de la insuficiencia pancreatica exocrina en edades temprana

A

Fibrosis quistica

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4
Q

Gen involucrado en fibrosis quistica

A

CFTR

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5
Q

Que quiere decir autosomica recesiva

A

Que requiere que ambas copias de ADN 🧬 el de la madre 👩🏻 y el padre 👨 estén afectados

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6
Q

Localización de la mutación

A

F508

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7
Q

Fisiopatologia de la fibrosis quistica

A

Alteración de la canales de Ca que produce secreciones espesas y deshidratadas

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8
Q

Esperanza de vida

A

30-40 años

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9
Q

Que se valora en el tamiz obligado

A

Tripsinogeno en sangre

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10
Q

Seguimiento en caso de tamiz positivo

A

Repetirlo a las 2 semanas

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11
Q

Seguimiento en caso de tamiz positivo

A

Repertir el tamiz en 2 semanas

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12
Q

Prueba diagnóstica definitiva o estándar de oro

A

Electrolitos en sudor 2 veces ionotest

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13
Q

Manifestaciones clínicas

A

Tos o diarrea crónica
Retraso ponderoestatural

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14
Q

Sistemas afectados

A

Pulmonar
Digestivo

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15
Q

Manifestaciones gastrointestinales de alta sospecha

A

Ileo meconial e insuficiencia pancreatica

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16
Q

Manifestaciones pulmonares

A

Infecciones de repetición

17
Q

Alteración ácido base hidroelectrolitis

A

Alcalosis metabólica hipocloremica

18
Q

Estudio ante casos atípicos

A

Prueba molecular

19
Q

Niveles de electrolitos en sudor para diagnóstico de fibrosis quistica

A

> 60 moosl

20
Q

Que sigue en caso de electrolitos en sudor 40-59

A

Prueba molecular

21
Q

Tratamiento a nivel pulmonar

A

Fisioterapia
Dnasa
Antibiótico

22
Q

Tratamiento para ileo

A

Enemas evacuantes

23
Q

Determinante de la sobrevida

A

Afectación pulmonar

24
Q

Antibiótico

A

Quinolonas

Pediatria 🧸 (30 decks)

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