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Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era
Neveen A Soliman1, Sameh Mabrouk2
1Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Primary hyperoxaluria type 1 (PH1) is a metabolic disorder causing excess oxalate. This review addresses diagnostic delays and treatment gaps in developing countries, advocating for equitable access to novel therapies.
Area of Science:
- Metabolic Disorders
- Genetics
- Pharmacology
Background:
- Primary hyperoxaluria type 1 (PH1) results from AGXT gene mutations, leading to hepatic oxalate overproduction.
- Diagnostic delays and management challenges are prevalent in developing countries, exacerbating healthcare disparities.
- Limited treatment options historically contrasted with emerging novel therapies.
Purpose of the Study:
- To review the current state of PH1 in developing countries.
- To analyze accessibility challenges and benefits of novel therapeutics for PH1.
- To propose an integrated approach for equitable access to sustainable PH1 treatments.
Main Methods:
- Literature review on PH1 epidemiology, diagnosis, and management in developing countries.
- Analysis of novel therapeutic agents and their accessibility.
- Discussion of strategies for personalized medicine and reduced healthcare disparities.
Main Results:
- Significant diagnostic delays and management gaps exist for PH1 in developing countries.
- Novel therapies offer potential to improve outcomes but face accessibility hurdles.
- An integrated, personalized approach is crucial for equitable treatment access.
Conclusions:
- Addressing PH1 disparities requires focused strategies for developing countries.
- Equitable access to novel therapeutics can bridge the care gap.
- Personalized medicine and sustainable treatments are key to improving global PH1 care.
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