Conditions / Urinary
autosomal dominant tubulointerstitial kidney disease 1
info · Urinary
An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage rena
An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12.
Signs and symptoms
- Tubulointerstitial nephritis
- Decreased urinary urate
- Renal insufficiency
- Stage 2 chronic kidney disease
- Stage 3 chronic kidney disease
- Stage 4 chronic kidney disease
- Chronic kidney disease
- Metabolic acidosis
- Elevated circulating parathyroid hormone level
- Renal tubular atrophy
Also known as: ADMCKD2; autosomal dominant medullary cystic kidney disease 2; familial juvenile gouty nephropathy; familial juvenile hyperuricemic nephropathy 1; glomerulocystic kidney disease with hyperuricemia and isosthenuria