Inherited Kidney Disorders Flashcards
How common is autosomal dominant polycystic kidney disease?
Between 1 in 400 and 1 in 1,000
The genes which cause Polycystic Kidney Disease if they are mutated are found in what chromosomes?
PKD1 = Chromosome 16 PKD2 = Chromosome 4
Which causes the majority of Polycystic Kidney Disease, PKD1 or PKD2?
PKD1 = 85% PKD2 = 15%
Patients with PKD2 develop ESRD earlier than those with PKD1. TRUE/FALSE?
FALSE
PKD1 develop ESRD earlier
What does Polycystic disease cause in the kidneys?
- Kidney enlargement
- Epithelial lined cysts from the renal tubules
- Benign adenomas
What features of ADPKD can cause haematuria?
cyst rupture
cystitis
stones
Does ADPKD increase or reduce the ability of the kidney to concentrate urine?
Decreases ability to concentrate it
=> dilute urine
What are the extra-renal manifestations of ADPKD?
Liver Cysts Intracranial aneurysms Cardiac Disease Diverticular Disease Hernias (abdominal/inguinal)
How long after the diagnosis of polycystic kidney disease, do liver cysts usually appear?
10y
Do liver cysts in polycystic kidney disease impair liver function?
No
What forms of cardiovascular disease can be manifestations of polycystic kidney disease?
- Mitral/Aortic valve prolapse
How is ADPKD diagnosed?
- Ultrasound = multiple bilateral cysts
- Renal enlargement
- CT/MRI (if unclear on US)
What age is deemed “early onset” ADPKD?
in utero OR First year of life
What is the main drug used to treat ADPKD, and what does it do?
Tolvaptan
- reduce cyst volume and progression
What other factors of ADPKD should be managed?
Hypertension-rigorous control
Hydration
Proteinuria reduction
Cyst Haemorrhage/Cyst Infection
What age are patients who are affected by autosomal recessive kidney disease?
Young children
How common is autosomal recessive kidney disease?
Rare condition (incidence 1/20,000)
The gene for autosomal recessive kidney disease is found on which chromosome?
PKDH1 on chromosome 6
Renal involvement is bilateral and symmetrical in autosomal recessive disease. TRUE/FALSE?
TRUE
Autosomal recessive kidney disease usually presents with cysts arising from where?
Collecting ducts
Are the kidneys always palpable in autosomal recessive PKD?
Yes
Do many patients with autosomal recessive PKD reach dialysis?
Only around 1/3 as the decline in GFR is slow
How is Alport’s syndrome genetically inherited?
X linked
Alport’s syndrome is a disorder of what type of collagen matrix?
Type IV collagen
