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Figure 2 | BMC Nephrology

Figure 2

From: A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

Figure 2

Inheritance ofPKD1novel variant (p.H1769Y) and mutation (p.Q2243X). (A) Renal ultrasound analysis of patients inheriting the PKD1 novel variant (p.H1769Y) and mutation (p.Q2243X). Patient (II-3) had normal kidney size with a total of 7 renal cysts. Patient (II-4) showed extremely enlarged kidneys with multiple renal cysts and a GFR of 25 mL/min/1.73 m2 at the age of 52. Patients (II-6) showed extremely enlarged kidneys with multiple renal cysts and reached renal failure at the age of 29. Patient (II-7) showed extremely enlarged kidneys with multiple cysts at the age of 25. White arrows showing large cysts (B) Multi sequence alignment of polycystin-1 orthologs showing conservation of p.H1769.

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