Primary Hyperoxaluria: A Comprehensive Review

Ebtehal Ben-Hamed; Sara Kara; Maisoona Alsaadi; Manal Aboagela; Nagat Alshohubi; Ayaa Elabany; Fatema Layas; Arij Mousa

المؤلفون

Ebtehal Ben-Hamed Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Sara Kara Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Maisoona Alsaadi Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Manal Aboagela
mabuagela@uot.edu.ly
Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Nagat Alshohubi Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Ayaa Elabany Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Fatema Layas Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya
Arij Mousa Public Health Department, Faculty of Medical Technology, University of Tripoli, Tripoli, Libya

الكلمات المفتاحية:

Primary Hyperoxaluria، Low Oxalate Diet، Primary Hyperoxaluria in Libya، Kidney Stones، Oxalate Metabolism، Genetic Mutations، Consanguineous marriage

الملخص

Hyperoxaluria is characterized by excessive urinary oxalate excretion, which eventually leads to calcium oxalate kidney stone formation and severe complications. Primary hyperoxaluria (PH) is a rare genetic disorder with subtypes PH1, PH2, and PH3, each caused by specific enzyme deficiencies leading to oxalate overproduction. Globally, type 1 hyperoxaluria is the most prevalent type, as well as in Libya and North Africa. PH1 is common due to inbreeding, which leads to more mutations. Effective management depends on prompt genetic diagnosis. Management options, including changes in food intake, pharmacotherapy, and organ replacement in extreme cases, have proven their reliability. Developments such as enzyme replacement therapy and gene therapy might be promising options for PH treatment. The suggested measurements aimed to achieve a prompt prevention of kidney stone formation and renal failure, and all the mentioned treatment options have been discussed in this paper.

Dimensions