Inherited renal conditions Flashcards
What are the modes of inheritance of cystic disease?
Autosomal recessive Autosomal dominant (most common)
What causes 85% of cases of ADPKD?
Mutations in PKD gene 1 on chromosome 16
What causes 15% of cases of ADPKD?
PKD2 mutations on chromosome 4
What 2 chromosomes are implicated in ADPKD?
Chromosome 16 and 4
Which mutation leads to an accelerated ESRD?
PKD 1 on chromosome 16
What is ADPKD?
Massive cyst enlargement of the kidneys
Epithelial lined cysts from a small population of renal tubules
Benign adenomas 25% of kidneys
What are the renal clinical features of ADPKD?
Reduced urine concentration ability Chronic pain Hypertension Haematuria Cyst infection Renal failure - worsening GFR
What are the extra renal clinical features of ADPKD?
Hepatic cysts: most common extra renal manifestation
Liver cysts present 10 years after renal cysts
Liver function generally preserved
Can result in SOB, pain, ankle swelling (compression of IVC and ascites
Berry aneurysm resulting in subarachnoid haemorrhage
Cardiac disease: mitral/aortic valve prolapse, valvular disease
Diverticular disease: diverticulitis and colonic perforation
Hernias: increased
How is ADPKD diagnosed?
Radiologic: USS (multiple bilateral cysts), renal enlargement, CT/MRI when unclear on USS
Genetic
How is ADPKD managed?
Hypertension - rigorous control Hydration Proteinuria reduction Cyst haemorrhage + cyst infection Tolvaptan
How is renal failure managed?
Dialysis
Transplantation
CV and cerebrovascular causes death
Who is likely to present with ARPDK?
Young children - associated with hepatic fibrotic lesions
Describe the pattern of disease in ARPKD?
Renal involvement is bilateral and symmetrical
Urinary tract is normal
Histologically cysts are seen appearing from the collecting duct system
What is the clinical presentation of ARPKD?
Depends on renal/ liver lesions Relevance is distinguishing between severe forms and ones which survive the neonatal period Kidneys ALWAYS palpable Hypertx Recurrent UTI Slow decline in GFR
What causes alport’s syndrome?
Disorder of type 4 collagen matrix - leads to deficient collagenous matrix
What are the common manifestations of alport?
Haematuria Proteinuria Sensorineural deafness Ocular defects - anterior lens dislocation Dysphagia
When should you suspect alport’s?
Haematuria with hearing loss
How is alport’s diagnosed?
Renal biopsy - variable thickness GMB is a characteristic feature
How is alport’s treated?
Aggressive treatment of BP and proteinuria
Dialysis/ transplantation
What is anderson fabry’s disease?
Inborn error of alpha galactosidase A resulting in an X-linked lysosomal storage disease
How is alport’s syndrome inherited?
X linked
What will anderson fabrys disease affect?
Kidneys
Liver
Lungs
Erythrocytes
What are the clinical features of anderson fabrys disease?
Renal failure Cutaneous angiokeratoma (pathognomic) Cardiomyopathy, valvular disease Stroke Acroparesthesia Psychiatric
How is fabrys disease diagnosed?
Plasma/ leukocyte alpha galactosidase activity
Renal biopsy - deposition of lipids in kidney
Skin biopsy
How is anderson fabrys disease treated?
Monthly infusions of fabryzyme
What is medullary cystic kidney disease?
Morphologically abnormal renal tubules leading to fibrosis
Normal / small kidneys
Cysts in corticomedullary junction
How is medullary cystic disease inherited?
AD
How is medullary cystic kidney disease diagnosed?
Family history
CT scan
Average presentation is mid 20s
How is medullary cystic kidney disease treated?
Transplant
What is medullary sponge kidney disease?
Dilation of collecting ducts
Cysts have calculi
How is medullary sponge kidney disease diagnosed?
Excretion urography to demarcate calculi
How is medullary sponge kidney inherited?
Sporadic
