Supplemento S73

Malattie renali ereditarie con fenotipo cistico ad espressione in età adulta: non solo ADPKD2


In recent years, the etiologies of many kidney diseases have been revealed as single-gene defects, due to the use of novel molecular genetic techniques. It is now clear that molecular diagnostics of kidney diseases plays a key role not only in the pediatric field, but also in adult nephrology. Recent data suggest that inherited disorders may account for approximately 10% of ESRD cases presenting in adulthood. Among hereditary kidney diseases, the most common are cystic diseases.

Here we describe five cases of adult-onset renal genetic disease with cystic phenotype, encountered in daily clinical practice. In particular, we discuss two cases of Polycystic Kidney Disease (PKD) and three cases of Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD). Molecular analysis was performed using Next Generation Sequencing (NGS) with a 7-gene panel for cystic kidney disease (PKD2, PKHD1, TSC1, TSC2, UMOD, HNF1B, REN).

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I metodi di sequenziamento di nuova generazione hanno rivoluzionato l’analisi genetica nell’ultimo decennio, spostando l’analisi da quella di singoli geni, basata su Sanger, allo screening che impiega pannelli di più geni-malattia, fino al sequenziamento dell’intero esoma (Whole Exome Sequencing, WES) e dell’intero genoma (Whole Genome Sequnecing, WGS).  Queste metodologie sono la base di una nuova generazione di test molecolari clinici [1]. 

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