Fanconi syndrome future or investigational therapies

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Some of the recently introduced strategies in the management of Fanconi syndrome are provided below; of note, due to various underlying mechanisms leading to the disease, researches are on in this field[1].

  • In a rare variant of Fanconi syndrome named Fanconi reno-tubular syndrome 1 (FRTS1), the patients have fatty acid oxidation problem due to a mitochondrial defect; dequalinium chloride (DECA) which s a newly introduced drug for hyperoxaluria[2] has appeared to be effective in treatment of this syndrome by not permitting the import of unfunctional mutated protein[1].
  • In other types of mitochondrial defects leading to Fanconi syndrome, it is of recently proposed that enhancement of this protein import by the drug sodium pyrithione can alleviate the disease[3].
  • Consumption of different anti-oxidants has shown promising results in the treatment of Fanconi syndrome with fatty acid oxidation defects[4].
  • It has been shown that Anti-apoptotic drugs are also very effective in Fanconi syndrome variants with cell apoptosis as a leading mechanism like tyrosinemia and cystinosis and [1][5].
  • Stimulation of mammalian target of rapamycin complex 1 (mTORC1), an important regulator protein in cell autophagy and lipid metabolism[6], by specific aminoacids or kinases[7] is also recently proposed as a potential therapeutic approach for Fanconi syndrome[1].
  • RNA silencing therapies are just recently introduced treatments targeting the down-regulation of disease genes with dominant inheritance[8] and for instance the regulator microRNA mir21 is proposed to be investigated as a therapeutic target for some variants of Fanconi syndrome[1].

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  1. 1.0 1.1 1.2 1.3 1.4 Enriko Klootwijk, Stephanie Dufek, Naomi Issler, Detlef Bockenhauer & Robert Kleta (2016)Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome,Expert Opinion on Orphan Drugs, 5:1, 45-54, DOI: [10.1080/21678707.2017.1259560]
  2. Miyata N, Steffen J, Johnson ME, Fargue S, Danpure CJ, Koehler CM (2014). "Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.". Proc Natl Acad Sci U S A. 111 (40): 14406–11. PMC 4210028Freely accessible. PMID 25237136. doi:10.1073/pnas.1408401111. 
  3. Aiyar RS, Bohnert M, Duvezin-Caubet S, Voisset C, Gagneur J, Fritsch ES; et al. (2014). "Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders.". Nat Commun. 5: 5585. PMC 4284804Freely accessible. PMID 25519239. doi:10.1038/ncomms6585. 
  4. Hall AM, Schuh CD (2016). "Mitochondria as therapeutic targets in acute kidney injury.". Curr Opin Nephrol Hypertens. 25 (4): 355–62. PMID 27166518. doi:10.1097/MNH.0000000000000228. 
  5. Kubo S, Sun M, Miyahara M, Umeyama K, Urakami K, Yamamoto T; et al. (1998). "Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.". Proc Natl Acad Sci U S A. 95 (16): 9552–7. PMC 21376Freely accessible. PMID 9689118. 
  6. Grahammer F, Ramakrishnan SK, Rinschen MM, Larionov AA, Syed M, Khatib H; et al. (2017). "mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.". J Am Soc Nephrol. 28 (1): 230–241. PMC 5198276Freely accessible. PMID 27297946. doi:10.1681/ASN.2015111224. 
  7. Dodd KM, Tee AR (2012). "Leucine and mTORC1: a complex relationship.". Am J Physiol Endocrinol Metab. 302 (11): E1329–42. PMID 22354780. doi:10.1152/ajpendo.00525.2011. 
  8. Klootwijk RD, Savelkoul PJ, Ciccone C, Manoli I, Caplen NJ, Krasnewich DM; et al. (2008). "Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.". FASEB J. 22 (11): 3846–52. PMC 2574030Freely accessible. PMID 18653764. doi:10.1096/fj.08-110890.