Familial Juvenile Hyperuricemic Nephropathy
Autoszomális domináns
A dominantly inherited tubulointerstitial kidney disease, most often caused by UMOD variants (and also REN or SEC61A1), with high uric acid, early gout and gradual loss of kidney function.
Mit változtat a diagnózis
Knowing supports kidney function monitoring, gout treatment and careful evaluation of related living kidney donors; the REN form may respond to fludrocortisone.
Más néven
familial juvenile gouty nephropathy; familial nephropathy associated with hyperuricemia; familial nephropathy with gout; FJHN; gouty nephropathy, familial; juvenile gout; juvenile gouty nephropathy; tubulointerstitial kidney disease
7 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- familial juvenile hyperuricemic nephropathy type 1
- familial juvenile hyperuricemic nephropathy type 2
- hyperuricemic nephropathy, familial juvenile type 3
- hyperuricemic nephropathy, familial juvenile type 4
- renal cysts and diabetes syndrome
- tubulointerstitial kidney disease, autosomal dominant 6
- tubulointerstitial kidney disease, autosomal dominant, 2
