Supplementary Material for: Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History

<b><i>Background:</i></b> Genetic characteristics of polycystic kidney disease (PKD) patients without apparent family history were reported to be different from those with a positive family history. However, the clinical course of PKD patients with no apparent family history is not well documented in the literature. <b><i>Methods:</i></b> We evaluated the relationship between genotype and the clinical course of 62 PKD patients with no apparent family history. <b><i>Results:</i></b> The annual decline of renal function was faster in the patients with <i>PKD1</i>/<i>PKD2</i> mutation (<i>PKD1</i> truncating [–3.08; 95% CI –5.30 to –0.87, <i>p</i> = 0.007], <i>PKD1</i> nontruncating [–2.10; –3.82 to –0.38, <i>p</i> = 0.02], and <i>PKD2</i> [–2.31; –4.40 to –0.23, <i>p</i> = 0.03]) than in the other patients without <i>PKD1</i>/<i>PKD2</i> mutation. Similar results were obtained after adjustment for gender, age, estimated glomerular filtration rate (eGFR), height-adjusted total kidney volume (TKV), and mean arterial pressure (MAP). There was no significant difference in the annual decline of renal function among the different <i>PKD1</i>/<i>PKD2</i> groups, but Kaplan-Meier analysis showed that progression to eGFR &lt; 15 mL/min/1.73 m² was significantly faster in <i>PKD1</i> truncating group (<i>p</i> = 0.05). The annual rate of TKV increase was larger in the patients with <i>PKD1</i>/<i>PKD2</i> mutation (<i>PKD1</i> truncating [4.63; 95% CI 0.62–8.64, <i>p</i> = 0.03], <i>PKD1</i> nontruncating [3.79; 0.55–7.03, <i>p</i> = 0.02], and <i>PKD2</i> [2.11; –1.90 to 6.12, <i>p</i> = 0.29]) than in the other patients without <i>PKD1</i>/<i>PKD2</i> mutation. Similar results were obtained after adjustment for gender, age, eGFR, and MAP. <b><i>Conclusion:</i></b> Detection of <i>PKD1</i>/<i>PKD2</i> mutation, especially <i>PKD1</i> truncating, is useful for predicting the renal outcome and rate of TKV increase in PKD patients with no apparent family history.