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Dr. Marco Castori
UOC Genetica Medica
AO San Camillo-Forlanini
Centro di Riferimento Regionale Malattie Rare
Roma
Telefono: 065870-4355/4622
Email: m.castori@scf.gov.it
Frequenza alla nascita: ~1/3.500
Linea primitiva
come “campo dello
sviluppo”
Alcuni pazienti con associazione
VACTERL presentano delezioni
multigeniche incluso FOXF1
V= vertebral (difetti vertebrali)
A= anal(atresia anale)
C= cardiac (difetti cardiaci)
TE= tracheo-esophageal (atresia esofagea +/- fistola)
R= renal and radial (anomalie renali e radiali)
L= limb (altri difetti agli arti)
Diagnosi “di esclusione”
Presenza di un “numero” di difetti in assenza di sindromi note
Tendenza prevalente: almeno 3 difetti preferibilmente in tre segmenti
corporei differenti (arti, torace, addome)
Frequenza: ~1/12.500
VACTERL
Mutazioni mitocondriali
Mutazioni DNA
Eventi stocastici
Microdelezioni/duplicazioni
Diabete materno
Checklist “genetico”:
1. Storia familiare
2. Storia della gravidanza (teratogeni, gemellarità, ecc)
3. Cariotipo standard
4. *CGH array
5. **analisi mutazionale di singoli geni (ZIC3, FOXF1, FGF8, PCSK5, ecc)
6. **analisi DNA mitocondriale
(solitamente)
Rischio di ricorrenza basso (<3%, 3-5%)
Monitoraggio ecografico
1. Sindrome di Feingold
2. Sindrome CHARGE
3. Sindrome AEG
4. Microcefalia-disostosi
maxillofacciale
1. Diagnosi differenziale (isolata vs associata)
2. Inquadramento nosologico
3. Orientamento assistenziale
4. Presa in carico a lungo termine (specifici aspetti)
5. Stima dei rischi di ricorrenza
6. Opzioni riproduttive
7. Pianificazione future gravidanze
Atresia Esofagea - Ereditarietà, cause genetiche, sindromi associate
Atresia Esofagea - Ereditarietà, cause genetiche, sindromi associate

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Atresia Esofagea - Ereditarietà, cause genetiche, sindromi associate

  • 1. Dr. Marco Castori UOC Genetica Medica AO San Camillo-Forlanini Centro di Riferimento Regionale Malattie Rare Roma Telefono: 065870-4355/4622 Email: m.castori@scf.gov.it
  • 3.
  • 4.
  • 5. Linea primitiva come “campo dello sviluppo”
  • 6.
  • 7. Alcuni pazienti con associazione VACTERL presentano delezioni multigeniche incluso FOXF1
  • 8. V= vertebral (difetti vertebrali) A= anal(atresia anale) C= cardiac (difetti cardiaci) TE= tracheo-esophageal (atresia esofagea +/- fistola) R= renal and radial (anomalie renali e radiali) L= limb (altri difetti agli arti) Diagnosi “di esclusione” Presenza di un “numero” di difetti in assenza di sindromi note Tendenza prevalente: almeno 3 difetti preferibilmente in tre segmenti corporei differenti (arti, torace, addome) Frequenza: ~1/12.500
  • 9. VACTERL Mutazioni mitocondriali Mutazioni DNA Eventi stocastici Microdelezioni/duplicazioni Diabete materno
  • 10. Checklist “genetico”: 1. Storia familiare 2. Storia della gravidanza (teratogeni, gemellarità, ecc) 3. Cariotipo standard 4. *CGH array 5. **analisi mutazionale di singoli geni (ZIC3, FOXF1, FGF8, PCSK5, ecc) 6. **analisi DNA mitocondriale (solitamente) Rischio di ricorrenza basso (<3%, 3-5%) Monitoraggio ecografico
  • 11. 1. Sindrome di Feingold 2. Sindrome CHARGE 3. Sindrome AEG 4. Microcefalia-disostosi maxillofacciale
  • 12. 1. Diagnosi differenziale (isolata vs associata) 2. Inquadramento nosologico 3. Orientamento assistenziale 4. Presa in carico a lungo termine (specifici aspetti) 5. Stima dei rischi di ricorrenza 6. Opzioni riproduttive 7. Pianificazione future gravidanze