Inherited Renal Disease Flashcards
Which mutation causing ADPKD is most common?
PKD1
The PKD gene 1 mutation, accounting for 85% of cases of ADPKD is found on which chromosome?
16
The PKD gene 2 mutation, accounting for 15% of cases of ADPKD is found on which chromosome?
4
What happens to the size of the kidneys in polycystic kidney disease?
They are enlarged
In addition to cysts, which other benign pathology is seen in the kidneys of 25% of those with ADPKD?
Adenomas
Patients with ADPKD caused by a PKD1 mutation tend to develop ESRF around what age?
50
Patients with ADPKD caused by a PKD2 mutation tend to develop ESRF around what age?
70
Why may patients with ADPKD experience pain and haematuria?
Cyst haemorrhage or rupture
What is the mean age of development of hypertension in patients with ADPKD?
31
What are the two most significant extra-renal manifestations of ADPKD?
Hepatic cysts and berry aneurysms
When do liver cysts tend to present in individuals with ADPKD?
10 years after renal cysts
Do the liver cysts seen in ADPKD have any effect on liver function?
Usually not
Rupture of a berry aneurysm in someone with ADPKD leads to what?
Subarachnoid haemorrhage
Berry aneurysms associated with ADPKD are normally located in which vascular territory of the brain?
Anterior circulation
Which cardiac abnormalities are associated with ADPKD?
Mitral/aortic valve prolapse
There is an increased risk of which GI condition and its complications in individuals with ADPKD?
Diverticular disease
Which imaging investigation is used first line to identify ADPKD?
Renal ultrasound
Which imaging investigation can measure the volume of cysts in ADPKD?
MRI
What investigation is used to screen for berry aneurysms in individuals with an affected first degree family member with ADPKD?
MR angiogram
Management of ADPKD involves rigorous control of hypertension and proteinuria with what drugs?
ACE inhibitor or ARB
How should fluid and salt intake be altered in individuals with ADPKD?
High fluid intake, low salt intake
Tolvaptan is a drug licensed to treat which inherited renal condition?
ADPKD
What type of drug is tolvaptan?
V2 vasopressin receptor antagonist
The offspring of an individual with ADPKD has what % chance of inheriting the condition?
50%
Sometimes it can be difficult to distinguish between AD and AR polycystic kidney disease in children. What feature on ultrasound would be suggestive of recessive disease?
Congenital hepatic fibrosis
Who is ARPKD seen in?
Young children
ARPKD is always associated with what other feature?
Hepatic lesions
The gene affected in ARPKD is found on which chromosome?
6
In ARPKD, cysts appear from which part of the kidney?
Collecting ducts
How may ARPKD present?
Palpable kidneys, hypertension and recurrent UTIs
Is there any specific therapy for ARPKD?
No
In the majority of cases affecting adults, how is medullary cystic kidney inherited?
Autosomal dominant
What happens to the size of the kidneys in medullary cystic kidney?
They are normal or small
Clinical features of medullary cystic kidney are due to enuresis. What are some examples of these features?
Polyuria, polydipsia, salt wasting
How is medullary cystic kidney usually treated?
Renal transplant
How is medullary sponge kidney inherited?
Sporadically
The cysts in medullary sponge kidney are associated with what other abnormality?
Calculi
How is Alport’s syndrome inherited?
X linked
Alport’s syndrome is caused by a deficiency of what?
Type IV collagen
What is the characteristic feature of Alport’s syndrome?
Haematuria
The presence of what in the urine confers a bad prognosis in Alport’s syndrome?
Protein
What are the two most common extra-renal features of Alport’s syndrome?
Sensorineural hearing loss and ocular defects
A renal biopsy of Alport’s syndrome shows what?
Splitting (variable thickness) of the GBM
Is there any specific treatment for Alport’s syndrome?
No
How is Anderson-Fabry’s disease inherited?
X linked
Anderson-Fabry’s disease is caused by a deficiency of what?
Alpha-galactosidase A
What is the main dermatological feature of Anderson-Fabry’s disease?
Angiokeratomas
How is Anderson-Fabry’s disease treated?
Enzyme replacement therapy
