Fanconi syndrome future or investigational therapies: Difference between revisions
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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<ref name="pmid26281194">{{cite journal| author=Krasnova TN, Samokhodskaya LM, Ivanitsky LV, Korogodina AD, Borisov EN, Nikiforova NV et al.| title=[Impact of interleukin-10 and interleukin-28 gene polymorphisms on the development and course of lupus nephritis]. | journal=Ter Arkh | year= 2015 | volume= 87 | issue= 6 | pages= 40-44 | pmid=26281194 | doi=10.17116/terarkh201587640-44 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26281194 }} </ref>. | 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<ref name="pmid26281194">{{cite journal| author=Krasnova TN, Samokhodskaya LM, Ivanitsky LV, Korogodina AD, Borisov EN, Nikiforova NV et al.| title=[Impact of interleukin-10 and interleukin-28 gene polymorphisms on the development and course of lupus nephritis]. | journal=Ter Arkh | year= 2015 | volume= 87 | issue= 6 | pages= 40-44 | pmid=26281194 | doi=10.17116/terarkh201587640-44 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26281194 }} </ref>. | ||
* 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 has appeared to be effective in treatment of this syndrome by not permitting the import of unfunctional mutated protein. | * 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 has appeared to be effective in treatment of this syndrome by not permitting the import of unfunctional mutated protein<ref name="pmid26281194" /><ref name="pmid25237136">{{cite journal| author=Miyata N, Steffen J, Johnson ME, Fargue S, Danpure CJ, Koehler CM| title=Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1. | journal=Proc Natl Acad Sci U S A | year= 2014 | volume= 111 | issue= 40 | pages= 14406-11 | pmid=25237136 | doi=10.1073/pnas.1408401111 | pmc=4210028 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25237136 }}</ref>. | ||
* 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. | * 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. | ||
* Consumption of different anti-oxidants has shown promising results in the treatment of Fanconi syndrome with fatty acid oxidation defects. | * Consumption of different anti-oxidants has shown promising results in the treatment of Fanconi syndrome with fatty acid oxidation defects. | ||
Revision as of 04:54, 14 June 2018
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 has appeared to be effective in treatment of this syndrome by not permitting the import of unfunctional mutated protein[1][2].
- 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.
- Consumption of different anti-oxidants has shown promising results in the treatment of Fanconi syndrome with fatty acid oxidation defects.
- 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.
- Stimulation of mammalian target of rapamycin complex 1 (mTORC1), an important regulator protein in cell autophagy and lipid metabolism, by specific aminoacids or kinases is also recently suggested as a therapeutic approach for Fanconi syndrome.
- RNA silencing therapies are just recently introduced treatments targeting the down-regulation of disease genes with dominant inheritance and for instance the regulator microRNA mir21 is proposed to be investigated as a therapeutic target for some variants of Fanconi syndrome.
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References
- ↑ 1.0 1.1 Krasnova TN, Samokhodskaya LM, Ivanitsky LV, Korogodina AD, Borisov EN, Nikiforova NV; et al. (2015). "[Impact of interleukin-10 and interleukin-28 gene polymorphisms on the development and course of lupus nephritis]". Ter Arkh. 87 (6): 40–44. doi:10.17116/terarkh201587640-44. PMID 26281194.
- ↑ 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. doi:10.1073/pnas.1408401111. PMC 4210028. PMID 25237136.