Flashcards in Inherited disorders of the kidney Deck (63):
How can polycystic kidney disease be categorised?
Which type of polycystic kidney disease is common?
Which ethnicity gets polycystic kidney disease most often?
Equal incidence across the races
Where are the mutations found in ADPKD? Which mutation is most common?
Chromosome 16 (common) - PKD1
Chromosome 4 - PKD2
Are PKD1 or PKD2 mutations associated with a worse prognosis?
PKD1 (develop failure at an earlier stage)
How do PKD kidneys appear on USS?
Large with many cysts (bilateral in nature)
Where do the cysts in ADPKD arise from?
Benign adenomas are associated with ADPKD. T/F
How does ADPKD present clinically?
Dilute urine (inability to concentrate)
Chronic loin pain
How does haematurea arise from ADPKD?
How common is hypertension in association with ADPKD? When does it present?
Apart from renal cysts, which other type of cyst is associated with ADPKD?
How do liver cysts present (in association with PKD)?
10 years post renal cysts
Normal liver function (commonly) OR SoB, ankle swelling, pain
Which type of intra cranial aneurysm is associated with ADPKD?
Berry aneurysm (arising from circle of willis)
Family members of ADPKD patients are screened for aneurysms. T/F
What are the cardiac features of ADPKD?
Mitral valve prolapse
Aortic valve prolapse
Collagenous/myxomatous valve degeneration
What are the GI features of ADPKD? Which is most common?
Liver cysts (most common)
What are the complications of diverticular disease?
There is an increased risk of oesophageal hernias in ADPKD. T/F
False - increased risk of abdominal & inguinal
How is ADPKD diagnosed?
CT/MRI (when unable to visualise on USS)
What is rarely seen on x-ray of the kidneys?
Can ADPKD present in children?
It's rare but yes (uteri or 1st year of life)
How can ADPKD and ARPKD in children be differentiated?
USS showing congenital hepatic fibrosis is suggestive of ARPKD
Cerebral aneurysms in children with ADPKD are common. T/F
When is genetic counselling required with respect to ADPKD?
How is ADPKD managed?
BP control & proteinuria reduction
Renal replacement therapy
How are cyst haemorrhages/infections managed with respect to ADPKD?
Antibiotics +/- drainage +/- excision
Who is affected by ARPKD? What is it associated with?
Hepatic lesions (at time of diagnosis)
How common is ARPKD?
Where is the mutation in ARPKD found?
Describe the pattern of renal involvement in ARPKD?
How is the urinary tract affected in ARPKD?
It usually isn't
Where do cysts associated with ARPKD arise from?
How does ARPKD present?
Varies depending on renal and liver involvement
How fast does the GFR in ARPKD decline?
How is ARPKD diagnosed?
CT/MRI if unable to visualise clearly
What is the prognosis of ARPKD?
Poor but better if the child manages to survive the first year of life
What is Alport's syndrome?
Hereditary nephritis due to a disorder of type 4 collagen
How is Alport's syndrome inherited?
How does Alport's syndrome present?
Late proteinuria (bad prognostic indicator)
When should Alport's syndrome be suspected?
Haematuria and hearing loss
How is Alport's syndrome diagnosed? What will this show?
Variable thickness of GBM
How is Alport's syndrome treated?
BP & proteinuria control
Renal replacement therapy
What is Anderson Fabry's disease?
Inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)
How is Anderson Fabry's disease inherited?
Which systems are affected by Anderson Fabry's disease?
How common is Anderson Fabry's disease?
How does Anderson Fabry's disease present?
How is Anderson Fabry's disease diagnosed?
Plasma/leucocyte a-GAL activity
How is Anderson Fabry's disease managed?
Fabryzyme enzyme replacement
How is medullary cystic kidney disease inherited?
What is medullary cystic kidney disease?
Abnormal renal tubules --> renal fibrosis
How will medullary cystic kidneys appear on USS?
Where do the cysts arise in medullary cystic kidneys?
Which age group is affected by medullary cystic kidneys?
How is medullary cystic kidney disease diagnosed?
How is medullary cystic kidney disease treated?
How common is medullary sponge kidney? How is it inherited?
What is the pathological process occuring in medullary sponge kidney?
Dilation of collecting ducts
In which inherited renal condition do the cysts present in the kidney have calculi?
Medullary sponge kidney
Nb - stone formation occurs in MSK which is different to the cyst calcification which can (rarely) be seen in ADPKD
How is medullary sponge kidney diagnosed?
Excretory urogram (showing calculi)
How common is renal failure in association with medullary sponge kidney?