Sindrome di Goodpasture
Table of Contents
Definizione
La sindrome di Goodpasture è caratterizzata da una triade sintomatologica:
- Glomeruloonefrite di tipo rapidamente progressivo;
- Emorragie polmonari;
- Presenza di anticorpi circolanti anti-membrana basale glomerulare (anti MBG).
Nella diagnosi differenziale sono incluse le malattie non autoimmuni (come la polmonite da Legionella),tuttavia, in genere, è una manifestazione di una malattia autoimmune. Nella diagnosi differenziale della sindrome di Goodpasture dovrebbero escludersi LES,crioglobulinemia, vasculite necrotizzante.
Epidemiologia
La sindrome di Goodpasture è poco frequente; e ha un’incidenzadi circa 0,1 casi per milione di popolazione. La distribuzione del sesso è indifferente anche se vi è una lieve prevalenza di quello maschile. Colpisce tutte le età della vita, ma presenta una distribuzione bimodale con un primo picco all’età di 30 anni e un secondo all’età di 60 anni. In questo secondo periodo della vita è più colpito il sesso femminile. L’incidenza della malattia è maggiore nella primavera e l’inizio dell’estate.Fattore geneticopredisponente è l’aplotipo HLA-DR W2.
Sintomatologia
Nel 50% dei casi il primo sintomo che compare è rappresentato da un’ emòftoe di variabile entità (da uno sputo striato di sangue fino all’ espettorato francamente ematico con inondazione di sangue intralveolare). La sintomatologia polmonare può precedere quella renale o comparire contemporaneamente. L’intervallo di tempo tra la comparsa della sintomatologia polmonare e quella renale può variare da qualche settimana a molti anni. L’ emòftoe può essere preceduto da.
- febbre
- tosse stizzosa
- dispnea
- cianosi labiale
- rantoli alle basi del torace.
Nel 10-30% un’ infezione delle alte vie respiratorie può precedere l’episodio diemòftoe ed in alcuni casi viene accertata una recente esposizione al:
- fumo di sigarette
- idrocarburi
- cocaina per inalazione
- prodotti usati per la permanente dei capelli.
Lasintomatologia renaleè variabile; in alcuni pazienti si osserva microematuria e funzione renale normale per molti anni che tuttavia può peggiorare rapidamente nel corso di una riacutizzazione della malattia (episodio diemòftoe). In altri casi, in cui il danno renale è esteso, si può osservare un episodio di macroematuria con successiva contrazione della diuresi (oliguria seguita da anuria) e incremento della creatininemia. La progressione del danno renale è così rapida da richiedere l’uso dell’emodialisi. Il paziente presenta un pallore della cute e delle mucose che è in rapporto al grado di emoftoe e di insufficienza renale. Nel 10-20% dei casi è presente un’ipertensione arteriosa.
Diagnosi
La diagnosi si basa principalmente sulla presenza degli anticorpi anti-MBG in circolo in concomitanza di unasintomatologia polmonare e renale.Questa caratteristica bioumorale è importante perchéemorragie polmonaripossono comparire in occasione di altre glomerulonefriti primitive e secondarie, vasculiti, malattie del collageno, malattie cardiovascolari, infezioni, trombosi trombocitopenica, sindrome emolitica uremica, emosiderosi idiopatica. Nel 30% dei casi possono essere presenti anche anticorpi circolanti ANCA che si riscontrano prima della comparsa della malattia o durante il decorso clinico. In questi casi la malattia inizia con rash febbrili e mialgie. Il decorso clinico è peggiore nei pazienti con ANCA-positivi che presentano elevati livelli sierici di anticorpi anti-MBG.
Complicanze
Un rapido deterioramento della funzione renale comporta la necessità deltrattamento dialitico, mentre un’improvvisa insufficienza respiratoria, causata da notevole interessamento del parenchima polmonare (emorragia alveolare), comporta il trasferimento del paziente in strutture con terapia ventilatoria assistita.
Prognosi per la sindrome di Goodpasture
Il decorso clinico della malattia è caratterizzato da un rapidodeterioramento della funzione renale. In altri casi può essere graduale e progressivo; le riacutizzazioni si osservano in seguito a un episodioinfluenzale o dovuto ad un virus.Il consumo continuo di sigarette incrementa in rischio di episodi di emoftòe. E’stato osservato un incremento dei livelli sierici degli anticorpi anti-MBG in occasione degli episodi di riacutizzazione della malattia. In alcuni pazienti si può avere un lungo periodo di remissione della sintomatologia polmonare seguita da una progressione rapida dell’insufficienza renale tale richiede l’uso dell’emodialisi. In altri casi gli episodi di emoftòe sono tanto imponenti e drammatici da portare al decesso il paziente per insufficienza respiratoria dovuta inondazione ematica degli alveoli polmonari. La prognosi è subordinata al processo terapeutico perché il solo trattamento immunosoppressivo non è sufficiente.La prognosi è buona quando il trattamento è iniziato prima dell’insorgenza dell’insufficienza respiratoria o renale.
Terapia
I corticosteroidi, somministrati ad alti dosaggi per via endovenosa migliorano spesso e rapidamente la sintomatologia polmonare; invece molte volte non si osserva un comportamento simile per la funzione renale. L’uso dellaplasmaferesi(scambio quotidiano di 4-5 litri di sangue, plasma fresco ed emoderivati nei primi 7 giorni, seguito da una frequenza a giorni alterni per le successive 2 settimane) nelle prime settimane nella fase acuta della malattia, ha dimostrato una risposta più efficace ai boli di corticosteroidi e aifarmaci immunosoppressori.
Ti potrebbero interessare:
- Insufficienza renale cronica
- Insufficienza renale acuta (IRA)
- Glomerulonefrite con depositi mesangiali di IgA o malattia di Berger
- Glomerulonefrite acuta post- streptococcica
- Gomerulonefrite membranoproliferativa
- Emottisi
(Bibl. Malattie del rene e delle vie urinarie, F.P. Schiena, F.P. Selvaggi, L. Gesualdo, M. Battaglia)
Le informazioni contenute in questo sito sono presentate a solo scopo informativo, in nessun caso possono costituire la formulazione di una diagnosi o la prescrizione di un trattamento, e non intendono e non devono in alcun modo sostituire il rapporto diretto medico-paziente o la visita specialistica; si raccomanda di chiedere sempre il parere del proprio medico curante e/o di specialisti riguardo qualsiasi indicazione riportata. Se si hanno dubbi o quesiti sull’uso di un medicinale è necessario contattare il proprio medico.
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