Type: Renal
Autosomal dominant polycystic kidney disease
Commonest inherited kidney disease with progressive cyst growth and renal failure.
ავტორი:
Alport syndrome
Type IV collagen disorder with progressive nephritis, hearing loss and ocular changes.
ავტორი:
Bartter syndrome
Salt-wasting tubulopathy of the thick ascending limb with hypokalemic metabolic alkalosis.
ავტორი:
Focal segmental glomerulosclerosis
Pattern of glomerular scarring causing nephrotic-range proteinuria and progressive renal failure.
ავტორი:
Gitelman syndrome
Salt-wasting distal tubulopathy with hypokalemia, hypomagnesemia and hypocalciuria.
ავტორი:
IgA nephropathy
Glomerular disease from IgA immune-complex deposition; variable progression to renal failure.
ავტორი:
Nephronophthisis
Commonest genetic cause of end-stage renal disease in children, a ciliopathy.
ავტორი:
Primary hyperoxaluria
Hepatic overproduction of oxalate causing recurrent stones, nephrocalcinosis and systemic oxalosis.
ავტორი:
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