Fast Facts: Deficit di piruvato chinasi: Per una maggiore sensibilizzazione su questa rara malattia genetica
By B. Glader, W. Barcellini and R. Grace
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Fast Facts - B. Glader
Introduzione
Il deficit di piruvato chinasi (PK) eritrocitaria è una malattia ereditaria che si manifesta come anemia emolitica. Il deficit di PK è una condizione che dura tutta la vita, con sintomi che variano da lievi a gravi. Malgrado la crescente comprensione della fisiopatologia, dell’eziologia e dell’epidemiologia del deficit di piruvato chinasi e un programma attivo di ricerca, numerosi medici generici continuano ad avere scarsa familiarità con questa malattia.
Con questo opuscolo ci siamo posti l’obiettivo di fornire una breve guida sul deficit di PK ai medici di base, ma anche a ematologi, oncologi, pediatri, specialisti di medicina interna, infermieri del reparto di ematologia e studenti di medicina. Oltre a illustrare il difetto sottostante, nonché le modalità di trasmissione ereditaria e di manifestazione della malattia, esaminiamo anche l’approccio diagnostico e la diagnosi differenziale del deficit di PK, unitamente alle complicanze che possono insorgere e alle opzioni per il loro trattamento.
Ogni capitolo è supportato da punti chiave di apprendimento e riferimenti per ulteriori letture; invitiamo inoltre il lettore ad accedere ai FastTest, test rapidi gratuiti online che accompagnano questo opuscolo, all’indirizzo fastfacts.com per valutare la comprensione di questa malattia.
Auspichiamo che questa prima edizione di Fast Facts: Deficit di piruvato chinasi rappresenti un’utile risorsa per tutti coloro che desiderano approfondire la propria conoscenza di questa rara malattia genetica del sangue.
Il deficit di piruvato chinasi (PK) è il più comune difetto enzimatico che coinvolge la via glicolitica utilizzata dai globuli rossi (GR) per generare energia. La piruvato chinasi è una proteina tetramerica che catalizza la conversione del fosfoenolpiruvato in piruvato, una delle due fasi di generazione di energia nella glicolisi.
Il deficit di piruvato chinasi è stato descritto per la prima volta nel 1961.¹ È trasmesso come tratto autosomico recessivo ² e si manifesta come anemia emolitica congenita non sferocitica.³
Per comprendere l’impatto del deficit di piruvato chinasi, è necessario esaminare il metabolismo generale dei GR.
Vie metaboliche dei globuli rossi normali
Essendo privi di nucleo, ribosomi e mitocondri, i GR maturi sono incapaci di divisione cellulare e sintesi proteica, e non sono in grado di generare energia attraverso la fosforilazione ossidativa, come avviene in altri tipi di cellule. I GR si affidano invece alla scomposizione del glucosio in piruvato e lattato per produrre energia.
Due principali vie metaboliche eritrocitarie utilizzano il glucosio come substrato (Figura 1.1):
• la via glicolitica o di ‘produzione di energia’
• lo shunt dell’esoso monofosfato (HMP) (noto anche come via dei pentoso fosfati) o via