The Incorrect Statement is C
Statement C ("It is not associated with the presence of liver cysts") is INCORRECT because liver cysts are actually the most frequent extrarenal manifestation of ADPKD.
Analysis of Each Statement
A) Hereditary Disease - CORRECT
ADPKD is definitively a hereditary disease. The 2025 KDIGO guidelines clearly define it as "a group of dominantly inherited disorders associated with kidney cysts and extrarenal manifestations caused by a pathogenic variant in one gene associated with ADPKD" 1. The major genes PKD1 and PKD2 account for >90% of diagnosed families 1.
B) Abdominal Pain and Hypertension as Common Symptoms - CORRECT
Both are well-established common manifestations. The KDIGO 2025 guidelines explicitly state that ADPKD is "commonly associated with hypertension" and that "complications may include abdominal fullness and pain" 1. These are among the most frequent presenting symptoms in clinical practice 2.
C) Not Associated with Liver Cysts - INCORRECT
This statement is definitively false. The KDIGO 2025 guidelines explicitly state that "Polycystic liver disease (PLD) is the most frequent extra-renal manifestation of ADPKD" 1. The typical phenotype includes being "commonly associated with hypertension and liver cysts" 1.
The evidence shows:
- Liver cysts occur across all major ADPKD genotypes (PKD1, PKD2, and several minor genes) 1
- They are part of the "typical presentation" for extrarenal manifestations 1
- Some minor ADPKD genes like GANAB can even present primarily as polycystic liver disease 1
D) Cyst Infection Can Frequently Occur - CORRECT
Cyst infections are listed as a recognized complication in the KDIGO guidelines, which note that "complications may include...cyst infections" 1. This is a well-documented clinical problem in ADPKD management 2.
E) Associated with Nephrolithiasis in ~20% - CORRECT
The KDIGO 2025 guidelines specifically list "nephrolithiasis" among the complications of ADPKD 1. While the exact 20% figure isn't explicitly stated in the provided evidence, nephrolithiasis is an established manifestation 3.
Key Clinical Pitfall
Do not confuse ADPKD with isolated autosomal dominant polycystic liver disease (ADPLD). ADPLD is a separate condition caused by different genes (PRKCSH, SEC63, GANAB) that causes liver cysts with minimal or no kidney involvement 1. However, in ADPKD itself, liver cysts are the norm, not the exception.