Inherited Kidney Disease Flashcards
Mutation in which chromosome causes polycystic kidney disease 1
16
Majority of cases caused by this
Mutation in which chromosome causes polycystic kidney disease 2
4
Fewer cases caused by this mutation
Describe the pathology of ADPKD
Epithelial lined cysts arise from a small population of renal tubules
Cysts can become massively enlarged so the kidneys increase in size
ADPKD has the potential to become malignant - true or false
True
Very rare, more likely to develop benign adenomas
What are the renal features of ADPKD
Reduced urine concentration ability Chronic pain Hypertension Haematuria Cyst infection Renal failure
What is the most common extra renal manifestation of ADKPD
Hepatic cysts
How do hepatic cysts present
SOB
Pain
Ankle swelling
Liver function generally preserved
List some extra-renal complications of ADPKD
Hepatic cysts Intra-cranial aneurysms - can lead to stroke Mitral/aortic valve prolapse Valvular disease Diverticular disease Hernias
How do you diagnose ADPKD
US = will show cysts and renal enlargement
May need CT/MRI if unclear
Genetic tests
Can ADPKD present in children
Yes
Early onset can be in-utero or first year of life
Similar renal involvement to adults
How do you manage ADPKD
Rigorous BP control
Hydration
Proteinuria reduction
Tolvaptan - reduces cyst volume and progression
May need dialysis or transplant if the kidneys fail
Mutation in which chromosome leads to ARPKD
chromosome 6
Who is affected by ARPKD
Young children
Describe the pathophysiology of ARPKD
Cysts develop from collecting duct
Renal involvement is usually bilateral and symmetrical
Urinary tract is normal
Describe the clinical presentation of ARPKD
Palpable kidneys
Hypertension
Recurrent UTI
Slow decline in GFR
What causes Alport’s syndrome
X-linked mutation
Causes deficient type IV collagen matrix
Hoe does Alport’s syndrome present
Haematuria Proteinuria seen in late disease SN deafness Ocular defects Leiomyomatosis of oesophagus or genitalia
How do you diagnose Alport’s syndrome
Renal biopsy - variable thickness of glomerular basement membrane
From history
How do you treat Alport’s syndrome
Aggressive treatment of BP and proteinuria
Dialysis or transplant
What causes Anderson Fabry’s disease
Inborn error of glycosphingolipid metabolism - not enough enzyme
Lysosomal storage disease
Caused by X-linked disorder
What parts of the body does Anderson Fabry’s disease affect
Kidneys
Liver
Lungs
Erythrocytes
What are the clinical features of Anderson Fabry’s disease
Renal failure Angiokeratomas Decreased sweating Tinnitus Cardiomyopathy and valvular disease Stroke Acroparaethesia - pins and needles Psychiatric symptoms
How do you diagnose Anderson Fabry’s disease
Plasma/leukocyte a-GAL activity
Renal biopsy
Skin biopsy
How do you treat Anderson Fabry’s disease
Enzyme replacement - Fabryzyme
Manage the complications as appropriate
Describe the pathophysiology of Medullary cystic kidney
Autosomal dominant inherited condition
Morphologically abnormal renal tubules leading to fibrosis
May have small kidneys
Cysts in the corticomedullary junction/medulla
How do you diagnose medullary cystic kidney
Family history
CT scan
How do you treat medullary cystic kidney
Renal transplant
Describe the pathophysiology of medullary sponge kidney
Sporadic inheritance
Gives dilatation of the collecting ducts
Medullary region appears spongy
cysts with calculi
How do you diagnose medullary sponge kidney
Excretion urography - will show the calculi
