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