Fig. 3: Phenotype–genotype correlations. | Genetics in Medicine

Fig. 3: Phenotype–genotype correlations.

From: Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Fig. 3

(a) Spectrum of extrarenal manifestations according to genotypic groups: PKD1 total—red; PKD2 —blue, PKD1/2-negative—gray. (b) Mean age at end-stage renal disease (ESRD) including standard deviation in years according to different genotypes. (c) Kaplan–Meier curve, showing significant difference in renal survival between PKD1 (red; median = 57 years) and PKD2 carriers (blue; median = 68 years) and between carriers of a PKD1-truncating (red; median = 56 years) and a PKD1-nontruncating variant (orange; median = 59 years) (d). (e) Kaplan–Meier curve, showing significant difference in renal survival between male (median = 53 years) and female (median = 58 years) autosomal dominant polycystic kidney disease (ADPKD) patients, and differences in estimated glomerular filtration rate (eGFR) (CKD-EPI) at age according to sex (f). Statistic calculation was done by use of log-rank test (GraphPad; Prism). Renal survival is defined as absence of ESRD/renal replacement therapy. CNS central nervous system.

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