Fanconi renotubular syndrome

Definition:

Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.

References:

[1]. Alexander J Hamilton, et al. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet. 2014 Mar;51(3):165-9. [Content Brief]

[2]. Daniella Magen, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med. 2010 Mar 25;362(12):1102-9. [Content Brief]

[3]. Enriko D Klootwijk, et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med. 2014 Jan 9;370(2):129-38. [Content Brief]

[4]. Hana Hartmannová, et al. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. [Content Brief]

[5]. Markus Reichold, et al. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. [Content Brief]

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