Нігті-надколінник-подібна хвороба нирок
ORPHA:2613· ICD-10 N07.8· Nail-patella-like renal disease
Визначення(English summary)
A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal