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- Title
Primer hyperoxaluria. Tények és perspektívák.
- Authors
Tamás, KAUCSÁR; Bálint, MIKES; Kata, KELEN; Eszter, JÁVORSZKY; Ildikó, SZATMÁRI; Deján, DOBI; Kinga, NYIKULY; Ildikó, VÁRKONYI; Erika, MAKA; Antal, DEZSŐFI-GOTTL; István, MÁTTYUS; Csaba, LÓDI; Kálmán, TORY; Péter, SALLAY; Attila, SZABÓ J.; György, REUSZ
- Abstract
Primary hyperoxaluria is a rare metabolic disease. As a result of the glyoxylate metabolism disorder, large amounts of oxalate are formed, which due to poor solubility leads to oxalosis. Oxalosis first affects the kidneys and in milder forms lead to urolithiasis, nephrocalcinosis and in severe cases endstage renal disease develops. The disease type can be accurately identified by genetic testing. Its clinical appearance is quite variable. In milder cases the aim is to reduce oxalate production and to inhibit its precipitation. In more severe cases, renal replacement therapy may be required. To date liver transplantation is the only curative intervention. Biological therapy based on the inhibition of the main enzyme involved in oxalate formation by RNA interference may offer new perspectives in the complex treatment of the disease.
- Subjects
RENAL replacement therapy; OXALATES; BIOTHERAPY; THERAPEUTICS; METABOLIC disorders
- Publication
Hypertonia és Nephrologia, 2022, Vol 26, Issue 6, p276
- ISSN
1418-477X
- Publication type
Article
- DOI
10.33668/hn.26.030