Conditions / Urinary
X-linked nephrolithiasis type I
info · Urinary
A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on c
A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23.
Signs and symptoms
- Nephrocalcinosis
- Low-molecular-weight proteinuria
- Tubulointerstitial fibrosis
- Renal insufficiency
- Microscopic hematuria
- Glomerular sclerosis
- Hypercalciuria
- Renal tubular atrophy
- Proximal tubulopathy
- Kidney stone
Also known as: NPHL1; X-linked nephrolithiasis with renal failure; X-linked recessive urolithiasis type 1; XRN; nephrolithiasis 1