In:
American Journal of Nephrology, S. Karger AG, Vol. 49, No. 3 ( 2019), p. 233-240
Abstract:
〈 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 & #x3c; 15 mL/min/1.73 m 〈 sup 〉 2 〈 /sup 〉 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.
Type of Medium:
Online Resource
ISSN:
0250-8095
,
1421-9670
Language:
English
Publisher:
S. Karger AG
Publication Date:
2019
detail.hit.zdb_id:
1468523-1
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