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

Abstract

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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