karyomegalic interstitial nephritis

info · Genetic · ICD-10: N11.8

An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.

Signs and symptoms

Tubulointerstitial nephritis
Renal interstitial fibrosis
Nephronophthisis
Renal tubular cyst
Glycosuria
Proteinuria
Elevated circulating hepatic transaminase concentration
Stage 5 chronic kidney disease
Elevated circulating creatinine concentration
Increased blood urea nitrogen

Also known as: KIN; KMIN