autosomal dominant tubulointerstitial kidney disease 1

Term ID

DOID:0061122

Synonyms

• familial juvenile hyperuricemic nephropathy 1
• HNFJ1
• MCKD1
• medullary cystic kidney disease 1

Definition

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. https://pubmed.ncbi.nlm.nih.gov/31488840/

References

• MIM:162000

Ontology

Human Disease   ( DOID:0061122 )