autosomal dominant tubulointerstitial kidney disease 5

info · Urinary

An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21.

Signs and symptoms

Thickening of the tubular basement membrane
Chronic kidney disease
Anemia
Hyperechogenic kidneys
Renal dysplasia
Nephropathy
Elevated circulating parathyroid hormone level
Episodic vomiting
Focal segmental glomerulosclerosis
Decreased urinary uromodulin level

Also known as: familial juvenile hyperuricemic nephropathy 4