HNF1B-асоційоване аутосомно-домінантне тубулоінтерстиціальне захворювання нирок
ORPHA:93111· ICD-10 N11.8· HNF1B-related autosomal dominant tubulointerstitial kidney disease
Визначення(English summary)
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal