Polycystic Kidney Disease (PKD) Flashcards
What are the two main forms of PKD. (2)
Autosomal dominant polycystic kidney disease.
Autosomal recessive polycystic kidney disease.
What is the prevalence of APKD.
1:1,000.
What is the most common mutation in APKD.
85% have mutations in PKD1. (chromosome 16).
What is a common disease progression for patients with APKD with mutations in PKD1.
They often reach end stage renal failure by 50.
What are the two mutations found in APKD. (2)
85% have mutations in PKD1 (chromosome 16).
15% have mutations in PKD2 (chromosome 4).
What is a common disease progression for patients with APKD with mutations in PKD2.
A slower progression to end stage renal failure than those with PKD1 mutations.
They tend to reach end stage renal failure by 70.
What are the clinical signs of APDK. (12)
Renal enlargement with cysts. Abdominal pain. Haematuria (haemorrhage into a cyst). Cyst infection. Renal calculi. Raised BP. Progressive renal failure. Live cysts. Intra-cranial aneurysm (subarachnoid haemorrhage).. Mitral valve prolapse. Ovarian cysts. Diverticular disease.
What is the diagnosis for patients with APKD. (4)
Done by ultrasound.
18-39years > 3 unilateral or bilateral cysts.
40-59years >2 cysts in each kidney.
>60 years > 4 cysts in each kidney.
Who is screening for APDK done for. (2)
Screening for subarachnoid haemorrhage in 1st degree relatives of those with SAH and APKD.
Screening in certain professions (eg pilots).
What is the problem with APKD PKD2 mutations.
They may be silent for many years, so family screening is important.
What is the prevalence of RPKD.
1:40,000.
Where is the mutation in RPKD.
Chromosome 6.
What are the signs of RPKD. (3)
Variable!
May present in infancy with multiple renal cysts and congenital hepatic fibrosis.
