[Primary hyperoxaluria: A review]

Area of Science:

• Metabolic disorders
• Genetics
• Nephrology

Background:

• Primary hyperoxalurias (PH) are inherited metabolic diseases characterized by excessive oxalate production.
• This leads to hyperoxaluria, recurrent kidney stones (urolithiasis), and kidney calcification (nephrocalcinosis).
• Progressive kidney dysfunction and systemic oxalosis can occur in advanced stages.

Purpose of the Study:

• To outline the genetic basis and clinical manifestations of Primary Hyperoxalurias.
• To discuss diagnostic approaches and treatment strategies for PH.
• To highlight the importance of early intervention and transplantation.

Main Methods:

• Review of genetic defects causing PH types 1, 2, and 3.
• Analysis of clinical presentation, including urolithiasis and nephrocalcinosis.
• Evaluation of diagnostic methods: stone analysis, oxaluria, and DNA testing.
• Assessment of treatment outcomes: conservative management and liver-kidney transplantation.

Main Results:

• PH type 1 results from AGT deficiency, PH type 2 from GR/HPR deficiency, and PH type 3 from HOGA1 gene mutations.
• Recurrent kidney stones and nephrocalcinosis are key indicators.
• Delayed diagnosis is common, impacting prognosis.
• Conservative treatment with hydration, crystallization inhibitors, and pyridoxine can slow disease progression.
• Combined liver-kidney transplantation offers a definitive treatment for end-stage renal disease.

Conclusions:

• Primary hyperoxalurias are serious genetic conditions requiring timely diagnosis and management.
• Early conservative treatment is crucial for preventing end-stage renal disease.
• Liver-kidney transplantation is effective in correcting the metabolic defect in advanced cases.