Inherited Fanconi Renotubular Syndrome
A group of inherited proximal tubule disorders, caused by genes such as GATM, EHHADH and HNF4A, in which many substances are lost in the urine, which can affect bones and kidney function.
What a diagnosis changes
Knowing allows monitoring of kidney function and bone health and replacement of lost minerals where needed.
Also known as
hereditary Fanconi renotubular syndrome
Includes 6 related subtypes ↓Hide subtypes ↑
- Fanconi renotubular syndrome 1
- Fanconi renotubular syndrome 2
- Fanconi renotubular syndrome 3
- Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
- Fanconi renotubular syndrome 5
- primary Fanconi syndrome
