Inherited Kidney Disease Flashcards
What is Anderson Fabry’s Disease?
A X-Linked Lysosomal Storage Disease which is Uncommon and Affects the:
- Kidneys - Liver - Lungs - RBCs
How does Anderson Fabry’s Disease occur?
Deficiency of Alpha Glucocidase
What are clinical features of Anderson Fabry’s Disease?
Renal failure
Cutaneous i.e. Angiokeratomas
Cardiac i.e. Cardiomyopathy, Valvular Disease
Neurological i.e. Stroke, Acroparaesthesia
Psychiatric
How is Anderson Fabry’s Disease diagnosed?
Plasma/Leukocyte i.e. Alpha-GAL Activity
Renal Biopsy
Skin Biopsy
How is Anderson Fabry’s Disease treated?
Enzyme Replacement i.e. FabryzymeManagement of Complications
What is Medullary Cystic Disease?
This is a Rare, Inherited Cystic Disease which is Autosomal Dominant in Inheritance which causes Abnormal Renal Tubules leading to Fibrosis.
How does Medullary Cystic Disease appear?
The Renal Medulla and Cortex are Both Shrunken
Irregularly Distributed Cysts of variable Size at the Corticomedullary Junction and in the Outer Medulla
N.B. CYSTS ARE NOT NECESSARY FOR DIAGNOSIS
How is Medullary Cystic Disease diagnosed?
Family History
CT
How is Medullary Cystic Disease treated?
Renal Transplant
What are common presenting features of Medullary Sponge Disease?
Dilatation of Collecting Ducts
In Severe Cases, the Medullary Area appears Sponge-like
Cysts contain Calculi
How is Medullary Sponge Disease diagnosed?
Excretion Urography to Demarcate Calculi
How is Alport’s Syndrome diagnosed?
Renal Biopsy to show Variable Thickness in the Glomerular Basal Membrane (A Characteristic feature)
How is Alport’s Syndrome treated?
NO SPECIFIC TREATMENT
Aggressive control of BP
Reduce Proteinuria
Dialysis/Renal Transplantation if needed
What are the presenting features of ARPKD?
Bilateral and symmetrical renal involvement but Urinary Tract is NORMAL
Hypertension
Recurrent UTIs
Slow decline in GFR
