Conditions / Genetic
nephrotic syndrome type 17
info · Genetic
A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25.
Signs and symptoms
- Microscopic hematuria
- Focal segmental glomerulosclerosis
- Steroid-resistant nephrotic syndrome
- Stage 5 chronic kidney disease
- Proteinuria
- Short stature