autosomal dominant tubulointerstitial kidney disease 2

An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mut

An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22.

Signs and symptoms

• Impaired renal uric acid clearance
• Stage 5 chronic kidney disease
• Renal cortical atrophy
• Renal hypoplasia
• Tubulointerstitial fibrosis
• Tubulointerstitial nephritis
• Cerebral cortical atrophy
• Glomerular sclerosis
• Tubular basement membrane disintegration
• Renal tubular atrophy

Also known as: autosomal dominant medullary cystic kidney disease; medullary cystic kidney disease 1; medullary type polycystic kidneys