List of familial diseases characterized by kidney involvement
What familial diseases are characterized by kidney involvement?
• Autosomal dominant PKD (ADPKD) (chromosomes 4 and 16)
• Autosomal recessive PKD (linked to chromosome 6)
• Autosomal dominant tubulointerstitial kidney disease (previously known as familial juvenile hyperuricemic nephropathy type 1, medullary cystic kidney disease type 2, and or uromodulin-associated kidney disease, linked to chromosomes 1, 16, 17)
• Focal segmental glomerulosclerosis (linked to chromosomes 1, 9, 10, 11, 19)
• Hypertension
• Diabetes mellitus
• Fabry disease
• Alport syndrome
• Sickle cell nephropathy
• Familial hypercalcemic hypocalciuria
• Cystinuria
• HDR syndrome (syndrome of hypoparathyroidism, sensorineural hearing loss, and kidney disease; also called Barakat syndrome; mapped to chromosome 10p)
• Liddle syndromes of apparent mineralocorticoid excess and other monogenic hypertension
• Bartter and Gitelman syndromes
• Congenital nephrotic syndrome (Finish and other variants, mapped to chromosomes 1, 3, 11, 19)
