Inherited disorders of the kidney Flashcards
How can polycystic kidney disease be categorised?
Autosomal recessive
Autosomal dominant
Which type of polycystic kidney disease is common?
Autosomal dominant
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?
Renal tubules
Benign adenomas are associated with ADPKD. T/F
True!
How does ADPKD present clinically?
Dilute urine (inability to concentrate) Chronic loin pain Hypertension Haematuria Cyst infection Renal failure
How does haematurea arise from ADPKD?
Cyst rupture
Cystitis
Stones
How common is hypertension in association with ADPKD? When does it present?
Common
Younger patients
Apart from renal cysts, which other type of cyst is associated with ADPKD?
Hepatic
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
True
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?
Diverticular disease Liver cysts (most common)
What are the complications of diverticular disease?
Diverticulitis
Perforation
There is an increased risk of oesophageal hernias in ADPKD. T/F
False - increased risk of abdominal & inguinal
How is ADPKD diagnosed?
USS
CT/MRI (when unable to visualise on USS)
Genetic analysis
What is rarely seen on x-ray of the kidneys?
Cyst calcification
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
False
When is genetic counselling required with respect to ADPKD?
Pre testing
Post testing
How is ADPKD managed?
Tolvaptan
BP control & proteinuria reduction
Hydrate
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?
Young children Hepatic lesions (at time of diagnosis)
How common is ARPKD?
Uncommon
Where is the mutation in ARPKD found?
Chromosome 6
Describe the pattern of renal involvement in ARPKD?
Bilateral
Symmetrical
How is the urinary tract affected in ARPKD?
It usually isn’t
Where do cysts associated with ARPKD arise from?
Collecting ducts
How does ARPKD present?
Varies depending on renal and liver involvement
Palpable kidneys
Hypertension
Recurrent UTI
How fast does the GFR in ARPKD decline?
Slowly
How is ARPKD diagnosed?
USS
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?
X linked
How does Alport’s syndrome present?
Haematuria Late proteinuria (bad prognostic indicator) Sensorineural deafness Anterior lenticonus Leiomyomatosis
When should Alport’s syndrome be suspected?
Haematuria and hearing loss
How is Alport’s syndrome diagnosed? What will this show?
Biopsy
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?
X-linked
Which systems are affected by Anderson Fabry’s disease?
Kidneys
Liver
Lungs
Erythrocytes
How common is Anderson Fabry’s disease?
Un
How does Anderson Fabry’s disease present?
Renal failure Angiokeratomas Cardiomyopathy Valvular disease Stroke Acroparaesthesia Psychiatric problems
How is Anderson Fabry’s disease diagnosed?
Plasma/leucocyte a-GAL activity
Renal biopsy
Skin biopsy
How is Anderson Fabry’s disease managed?
Fabryzyme enzyme replacement
Complication management
How is medullary cystic kidney disease inherited?
Autosomal dominant
What is medullary cystic kidney disease?
Abnormal renal tubules –> renal fibrosis
How will medullary cystic kidneys appear on USS?
Normal/small
Where do the cysts arise in medullary cystic kidneys?
Corticomedullary junction
Medulla
Which age group is affected by medullary cystic kidneys?
> 28
How is medullary cystic kidney disease diagnosed?
Family history
CT scan
How is medullary cystic kidney disease treated?
Renal transplant
How common is medullary sponge kidney? How is it inherited?
Uncommon
Sporadically
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?
Uncommon
Which inherited kidney disease patients will do better on dialysis than the vast majority of dialysis patients?
ADPKD
