Last reviewed dd mmm yyyy. Last edited dd mmm yyyy
How autosomal dominant polycystic kidney disease affects the kidneys (1)
Cyst enlargement results in an exponential increase in total kidney volume (TKV; expressed relative to height (htTKV)) and often results in ESRD
Clinical symptoms, including early-onset hypertension, abdominal fullness and pain, haematuria and urinary tract infections (UTIs)
ADPKD diagnosis is made on the basis of imaging.
Age | PKD1 mutation | PKD2 mutation | Unknown ADPKD genotype |
15-30 years | >=3 cysts(a) • PPV = 100% • SEN = 94.3% | • >=3 cysts (a) • PPV = 100% • SEN = 69.5% | • >=3 cysts (a) • PPV = 100% • SEN = 81.7% |
30-39 years | >=3 cystsa • PPV = 100% • SEN = 96.6% | •> =3 cystsa • PPV=100% • SEN = 94.9% | • >=3 cystsa • PPV=100% • SEN = 95.5% |
40-49years | • >=2 cysts in each kidney • PPV = 100% • SEN = 92.6% | • >=2 cysts in each kidney • PPV = 100% • SEN = 88.8% | • >=2 cysts in each kidney • PPV = 100% • SEN = 90% |
Advances in renal imaging (magnetic resonance imaging MRI and high-resolution ultrasound) might help with disease exclusion in at-risk individuals. (2)
A study suggested that MRI showing >10 cysts in patients younger than 30 years is 100% sensitive and specific for the diagnosis of ADPKD (3)
Genetic testing is helpful to assess potential living related kidney donors with negative or equivocal scans and detect rare forms of ADPKD and other cystic diseases (4,5).
Prenatal screening. (6)
References:
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.