Fig. 1

Panel a Pedigree of the family showing the segregation analysis of haplotypes as well as PKD1 and TSC2 mutations. The arrow points the proband reported in this case Panel b MLPA for PKD1 gene and the 3′ end of TSC2 gene, each bar represents the normalized peak height for the probe indicated on the x axis. The heavy black lines represent the deletion of the PKD1 exons 1–10 in heterozygosis. Panel c AML volume evolution: 1A and 1B baseline; 2A and 2B at the end of 3 years treatment with mTOR inhibitors; 3A and 3B one year later (without treatment). The AML decreased in size after 3 years on treatment and slightly increased in size one year after treatment withdrawal. Panel d Right (top row) and left kidney (bottom row): initial MR (1R and 1L), after 3 years on treatment with mTOR inhibitors (2R and 2L) and 1 year later (without treatment) (3R and 3L)