inherited disorders of the kidney Flashcards
what is the most frequent life threatening hereditary kidney disease?
autosomal dominant polycystic disease
what causes autosomal dominant polycystic disease?
Autosomal dominant
Mutations in PKD gene 1 located in chromosome 16 (85%)
Mutations in PKD gene 2 located in chromosome 4 (15%)
what is the pathology of ADPKD?
- massive cyst enlargement large kidneys
- epithelial lined cysts arise from a small population of renal tubules
- benign adenomas (25% of kidneys)
what investigations are done for ADPKD?
Radiological:
- USS multiple bilateral cysts
- renal enlargement
- CT/MRI when unclear on USS
Genetic
how does ADPKD present?
massive cyst enlargement large kidneys
- epithelial lined cysts arise from a small population of renal tubules
- benign adenomas (25% of kidneys)
- Reduced urine concentration ability
- Chronic pain
- hypertension
- haematuria
- cyst infection
- Renal Failure
what is the management for ADPKD?
Hypertension-rigorous control
Hydration
Proteinuria reduction
Cyst Haemorrhage + cyst infection
Tovaptan (ADH receptor antagonist used to reduce cyst volume and progression)
Renal failure:
- dialysis
- transplantation
is ADPKD or ARPKD more common?
ADPKD
who is ARPKD more common in?
children
how does ARPKD present?
- renal involvement is bilateral and symmetrical
- urinary tract is normal
- histologically cysts are seen appearing from the collecting ducts
Clinical presentation varies and depends on the renal/liver lesions
Kidneys always palpable
Hypertension
Recurrent UTI
Slow decline in GFR (less than 1/3 reach dyalisis)
what is acquired cystic disease?
Developmental parapelvic cysts that develop with age
what is Alports syndrome?
-a disorder of type IV collagen matrix
what causes Alports syndrome?
- X linked inheritance
- mutation in COL4A5 gene leads to deficient collagenous matrix deposition
how does alports present?
- haematuria
- proteinuria (seen later is bad prognosis)
Extra renal:
- sensorineural deafness
- ocular defects (anterior lenticonus)
- leiomyomatosis of oesophagus/genetilia
how is alports diagnosed?
Diagnoses:
-suspect in patients with microscopic haematuria +/- hearing loss
Renal biopsy:
-variable thickness GBM (with splitting of the lamina densa which can be seen on electron microscopy)
what is the treatment for Alports?
No specific treatment!
- standard aggressive treatment of BP and proteinuria
- dialysis/ transplantation
what causes Anderson Fabry’s disease?
- X linked disease lysosomal storage disease
- Inborn error of Glycosphingolipid metabolism (deficiency of a-galactosidase A)
How does Anderson Fabry’s disease present?
Renal failure
Cutaneous- angiokeratomas
Cardiac- cardiomyopathy, valvular disease
Neuro-stroke, acroparaesthesia
Psychiatric
How is Fabrys disease diagnosed?
Diagnoses:
- Plasma/ Leukocyte a-GAL activity
- Renal biopsy
- Skin biopsy
what is the treatment for Fabrys?
Enzyme replacement- Fabryzyme
Manage complications
what is Medullary cystic kidney disease?
Rare inherited autosomal dominant cystic disease causing morphologically abnormal renal tubules leading to fibrosis
where are cysts found in medullary cystic disease?
-corticomedullary junction
what size are the kidneys in medullary cystic kidney disease?
-normal/ small in size
how is medullary cystic kidney disease diagnosed?
- FH
- CT scan
what is the treatment for medullary cystic kidney disease?
renal transplant
How does medullary Sponge kidney disease present?
- dilatation of the kidney ducts and in severe cases medullary area appears like a sponge
- cysts tend to have calculi
how is medullary sponge kidney disease diagnosed?
-excretion urography is done to demarcate calculi
