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Fibrosi Cistica OMIM 219700

Fibrosi Cistica OMIM 219700


La fibrosi cistica è una malattia genetica trasmessa con carattere autosomico recessivo dovuta a mutazioni del gene CFTR  sul cromosoma 7 (Cystic Fibrosis Transmembrane Regulator) che, attraverso la sintesi di una proteina, la CFTR, regola il flusso idroelettrolitico transmembrana.
Nei pazienti affetti i vari liquidi biologici come muco, sudore, saliva, sperma e succhi gastrici sono molto più densi e viscosi del normale. 
La malattia ha un andamento di tipo progressivo; compare in genere nella prima infanzia o più raramente si manifesta nel periodo neonatale (ileo da meconio) per poi peggiorare progressivamente. Caratteristicamente si ha la produzione di sudore ad alto contenuto di sali  e a livello bronchiale una secrezione mucosa fortemente viscosa che causa ostruzione ed infezioni bronchiali. Gli altri organi che possono essere colpiti sono il pancreas (insufficienza pancreatica, diabete giovanile, a volte pancreatite) e, più raramente, l'intestino (ostruzione) o il fegato (cirrosi), anche se possono essere interessati tutti gli organi interni.
La diagnosi si basa sul test del sudore (concentrazione di cloro superiore a 60 mmol/L)  e deve essere confermata dalla identificazione del gene CFTR mutato.
E' possibile la diagnosi prenatale mediante analisi molecolare sui villi coriali o  mediante amniocentesi (cariotipo molecolare Array-CGH) con la ricerca della mutazione genetica.
Importante la consulenza genetica nelle coppie portatrici della mutazione in eterozigosi.
Il rilievo ecografico prenatale di intestino iperecogeno rappresenta un segno di sospetto.

LISTA DEI GENI INTERESSATI E TIPO DI MUTAZIONE

Cystic Fibrosis CFTR Ser18Arg
Cystic Fibrosis CFTR Arg31Cys
Cystic Fibrosis CFTR Gln39Ter
Cystic Fibrosis CFTR Ala46Asp
Cystic Fibrosis CFTR Glu56Lys
Cystic Fibrosis CFTR Arg59Lys
Cystic Fibrosis CFTR Glu60Ter
Cystic Fibrosis CFTR Pro67Leu
Cystic Fibrosis CFTR Arg74Trp
Cystic Fibrosis CFTR Arg75Ter
Cystic Fibrosis CFTR Arg75Gln
Cystic Fibrosis CFTR Gly85Glu
Cystic Fibrosis CFTR Leu88Ile
Cystic Fibrosis CFTR Glu92Lys
Cystic Fibrosis CFTR Glu92Ter
Cystic Fibrosis CFTR Gln98Ter
Cystic Fibrosis CFTR Ile105Ser
Cystic Fibrosis CFTR Tyr109Gly
Cystic Fibrosis CFTR Asp110His
Cystic Fibrosis CFTR Arg117Cys
Cystic Fibrosis CFTR Arg117His
Cystic Fibrosis CFTR Tyr122Ter
Cystic Fibrosis CFTR Ile148Leu
Cystic Fibrosis CFTR Ile148Thr
Cystic Fibrosis CFTR Gly178Glu
Cystic Fibrosis CFTR Leu183Phe
Cystic Fibrosis CFTR His199Tyr
Cystic Fibrosis CFTR Pro205Ser
Cystic Fibrosis CFTR Leu206Trp
Cystic Fibrosis CFTR Gln220Ter
Cystic Fibrosis CFTR Leu227Arg
Cystic Fibrosis CFTR Gly241Glu
Cystic Fibrosis CFTR Cys276Ter
Cystic Fibrosis CFTR Phe316Leu
Cystic Fibrosis CFTR Gly330Ter
Cystic Fibrosis CFTR Arg334Trp
Cystic Fibrosis CFTR Ile336Lys
Cystic Fibrosis CFTR Thr338Ile
Cystic Fibrosis CFTR Ser341Pro
Cystic Fibrosis CFTR Phe342His
Cystic Fibrosis CFTR Arg347His
Cystic Fibrosis CFTR Arg347Pro
Cystic Fibrosis CFTR Arg352Gln
Cystic Fibrosis CFTR Gln359Lys
Cystic Fibrosis CFTR Trp361Gly
Cystic Fibrosis CFTR Gln378Ala
Cystic Fibrosis CFTR Asn386Ile
Cystic Fibrosis CFTR Trp401Ter
Cystic Fibrosis CFTR Gln414Ter
Cystic Fibrosis CFTR Ile444Arg
Cystic Fibrosis CFTR Lys447Arg
Cystic Fibrosis CFTR Ala455Glu
Cystic Fibrosis CFTR Ser466Ter
Cystic Fibrosis CFTR Leu467Pro
Cystic Fibrosis CFTR Gly473Glu
Cystic Fibrosis CFTR Ser489Ter
Cystic Fibrosis CFTR Ser492Phe
Cystic Fibrosis CFTR Gln493Ter
Cystic Fibrosis CFTR Ile507del
Cystic Fibrosis CFTR Phe508del
Cystic Fibrosis CFTR Tyr515Ter
Cystic Fibrosis CFTR Val520Phe
Cystic Fibrosis CFTR Gln525Ter
Cystic Fibrosis CFTR Gly542Ter
Cystic Fibrosis CFTR Ser549Arg
Cystic Fibrosis CFTR pSer549Asn
Cystic Fibrosis CFTR Gly551Val
Cystic Fibrosis CFTR Gly551Ser
Cystic Fibrosis CFTR Gly551Asp
Cystic Fibrosis CFTR Gln552Ter
Cystic Fibrosis CFTR Arg553Ter
Cystic Fibrosis CFTR Leu558Ser
Cystic Fibrosis CFTR Ala559Thr
Cystic Fibrosis CFTR Arg560Lys
Cystic Fibrosis CFTR Arg560Thr
Cystic Fibrosis CFTR Ala561Glu
Cystic Fibrosis CFTR Asp565Met
Cystic Fibrosis CFTR Tyr569Asp
Cystic Fibrosis CFTR Gly576Ala
Cystic Fibrosis CFTR Asp579Gly
Cystic Fibrosis CFTR Glu585Ter
Cystic Fibrosis CFTR Asp614Gly
Cystic Fibrosis CFTR Ser641Arg
Cystic Fibrosis CFTR Arg658Lys
Cystic Fibrosis CFTR Thr663Arg
Cystic Fibrosis CFTR Arg668Cys
Cystic Fibrosis CFTR Leu671Ter
Cystic Fibrosis CFTR Lys684Ser
Cystic Fibrosis CFTR Gln685Thr
Cystic Fibrosis CFTR Lys684Asn
Cystic Fibrosis CFTR Arg709Ter
Cystic Fibrosis CFTR Lys710Ter
Cystic Fibrosis CFTR Glu726Arg
Cystic Fibrosis CFTR Leu732Ter
Cystic Fibrosis CFTR Val739Tyr
Cystic Fibrosis CFTR Val754Met
Cystic Fibrosis CFTR Trp846Ter
Cystic Fibrosis CFTR Tyr849Ter
Cystic Fibrosis CFTR Arg851Ter
Cystic Fibrosis CFTR Phe861Leu
Cystic Fibrosis CFTR Gln890Ter
Cystic Fibrosis CFTR Ser912Ter
Cystic Fibrosis CFTR Val922Glu
Cystic Fibrosis CFTR Leu927Pro
Cystic Fibrosis CFTR Ser945Leu
Cystic Fibrosis CFTR Ala959His
Cystic Fibrosis CFTR Gly970Arg
Cystic Fibrosis CFTR Ser977Phe
Cystic Fibrosis CFTR Leu997Phe
Cystic Fibrosis CFTR Val1001Asp
Cystic Fibrosis CFTR Ile1027Thr
Cystic Fibrosis CFTR Phe1052Val
Cystic Fibrosis CFTR His1054Asp
Cystic Fibrosis CFTR Gly1061Arg
Cystic Fibrosis CFTR Leu1065Pro
Cystic Fibrosis CFTR Arg1066Cys
Cystic Fibrosis CFTR Arg1066His
Cystic Fibrosis CFTR Gly1069Arg
Cystic Fibrosis CFTR Arg1070Trp
Cystic Fibrosis CFTR Arg1070Gln
Cystic Fibrosis CFTR Phe1074Leu
Cystic Fibrosis CFTR Leu1077Pro
Cystic Fibrosis CFTR Trp1089Ter
Cystic Fibrosis CFTR Tyr1092Ter
Cystic Fibrosis CFTR Met1101Lys
Cystic Fibrosis CFTR Glu1104Ter
Cystic Fibrosis CFTR Asp1152His
Cystic Fibrosis CFTR Arg1158Ter
Cystic Fibrosis CFTR Arg1162Ter
Cystic Fibrosis CFTR Arg1162Leu
Cystic Fibrosis CFTR Lys1177Ser
Cystic Fibrosis CFTR Thr1179Ile
Cystic Fibrosis CFTR Ser1196Ter
Cystic Fibrosis CFTR Asp1202Ala
Cystic Fibrosis CFTR Trp1204Ter
Cystic Fibrosis CFTR Thr1220Lys
Cystic Fibrosis CFTR Ser1231Pro
Cystic Fibrosis CFTR Ile1234Val
Cystic Fibrosis CFTR Ser1235Arg
Cystic Fibrosis CFTR Gly1244Glu
Cystic Fibrosis CFTR Lys1250Arg
Cystic Fibrosis CFTR Ser1251Asn
Cystic Fibrosis CFTR Ser1255Pro
Cystic Fibrosis CFTR Ser1255Ter
Cystic Fibrosis CFTR Leu1258Phe
Cystic Fibrosis CFTR Asp1270Asn
Cystic Fibrosis CFTR Trp1282Ter
Cystic Fibrosis CFTR Ile1295Phe
Cystic Fibrosis CFTR Ser1297Phe
Cystic Fibrosis CFTR Asn1303Lys
Cystic Fibrosis CFTR Gln1313Ter
Cystic Fibrosis CFTR Gly1349Asp
Cystic Fibrosis CFTR Glu1371Ter
Cystic Fibrosis CFTR Cys1400Ter
Cystic Fibrosis CFTR Gln1412Ter
Cystic Fibrosis CFTR Glu1418Arg
Cystic Fibrosis CFTR Ser1435Gly

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