Нефронофтіз
ORPHA:655· ICD-10 Q61.5· Nephronophthisis
Визначення(English summary)
A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal