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
Proteinuria in Alport’s syndrome is an indicator of severe disease. TRUE/FALSE?
TRUE
What extra-renal manifestations would make you consider Alport’s syndrome as a diagnosis?
- Sensorineural deafness
- Ocular defects
- Difficulty swallowing (Leiomyomatosis of oesophagus)
What feature on a renal biopsy indicates Alport’s syndrome?
Varying thickness of the Glomerular Basement Membrane
What is Anderson-Fabrys disease and how is it inherited?
- deficiency of a-galactosidase A
- X linked disease
- Affects kidneys,liver,lungs,erythrocytes
What clinical features can be seen or found in Anderson-Fabrys disease?
Cutaneous - Angiokeratomas
Cardiac
- cardiomyopathy
- Valvular disease
Neurological
- stroke
- acroparaesthesia
- Psychiatric
How is fabrys disease confirmed?
- Plasma test for a-GAL activity
- Renal Biopsy
- Skin Biopsy
How is Anderson-Fabrys disease treated?
Enzyme replacement - Fabryzyme
Is medullary cystic disease autosomal dominant or recessive?
dominant
Describe the pathophysiology of medullary cystic disease
- Abnormal renal tubules leading to fibrosis
- Cysts in the corticomedullary junction/medulla
What is the average age at which medullary cystic disease presents?
Presents average age 28 yrs
What is the choice of treatment in medullary cystic disease?
Renal transplantation
What investigation is used to diagnose medullary sponge kidney?
Excretion Urography - to demarcate calculi
What is medullary sponge kidney and how is it inherited?
Dilatation of collecting ducts
Severe = medulla appears like a sponge
Cysts have calculi
Sporadic Inheritance
