Fanconi renotubular syndrome 2

A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35.

Signs and symptoms

• Bone pain
• Short stature
• Renal insufficiency
• Glycosuria
• Hypercalciuria
• Proteinuria
• Decreased glomerular filtration rate
• Elevated circulating calcitriol concentration
• Generalized aminoaciduria
• Osteopenia