PKD1 and Fabry disease: In detail, the family consists of the mother, asymptomatic with normal renal function, carrying the mutation in the GLA gene; the father, characterized by a severe renal phenotype, carrying the PKD1 mutation; and the three children—one daughter, with a normal kidney function, carrying the PKD1 mutation, a second daughter carrying both PKD1 and GLA mutations with normal renal function, mild proteinuria and absence of symptoms of Fabry disease, and a third brother carrying both PKD1 and GLA mutations, with moderate renal insufficiency along with cardiac and skin impairment from Fabry disease.