Mutations of the PKD2 Gene in Taiwanese Patients with Autosomal Dominant Polycystic Kidney Disease

Figures & data

Table 1. Characteristics of 20 Patients with ADPKD.

Sex (men/women)	11/9
Mean age (years)	55.2 ± 15.7
Patients with ESRD	11/20 (55%)
Mean age of ESRD (years)	52.6 ± 11.6
Hypertension	15/20 (75%)
Urolithiasis	3/20 (15%)
Ruptured intracranial aneurysm	1/20 (5%)
Mean creatinine in patients without ESRD (mg/dL)	1.6 ± 0.8

Note: Values expressed as mean ± SD.

Table 2. Mutations of the PKD2 Gene in the Current Study.

Patient	Mutation	Location	Nucleotide change	Clinical features
1	Nonsense: Y227X	Exon 2	C681A	ESRD at age of 50
2	Frameshift: 712 → 715X	Exon 11	2136-2137delG	Cr 1.5 at age of 70; cardiac valve abnormality; cardiac conduction defect
3	Nonsense: R803X	Exon 13	C2407T	ESRD at age of 52; urolithiasis

Figure 1. Sequence data showing three PKD2 gene mutations: (A) nonsense mutation Y227X, C681A; (B) frameshift mutation 712-715X, 2136-2137delG; and (C) nonsense mutation R803X, C2407T.