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Genetically Confirmed Hyperoxaluria in Iranian Children- A Multicenter Survey.
Nakysa Hooman1, Mahmood Maleknejad2, Mitra Basiratnia3
1Aliasghar Clinical Research Development Center, Department of Pediatrics, School of Medicine, Iran University of Medical Sciences(IUMS), Tehran, Iran.
Iranian Journal of Kidney Diseases
|June 3, 2026
Summary
Primary hyperoxaluria (PH) diagnosis in Iran is often delayed, with genetic confirmation occurring in older children. This leads to a higher need for kidney replacement therapy and transplantation.
Area of Science:
- Nephrology
- Genetics
- Rare Diseases
Background:
- Primary hyperoxaluria (PH) is a rare, autosomal recessive disorder.
- It presents heterogeneously, often leading to kidney failure and systemic organ involvement.
Purpose of the Study:
- To determine the number of genetically verified Primary hyperoxaluria (PH) cases in Iran.
- To understand the diagnostic and treatment patterns for PH in the Iranian population.
Main Methods:
- A survey was distributed to members of the Iranian Society of Pediatric Nephrology (IranSPN).
- Data collected included suspected hyperoxaluria (HOX) cases and genetic testing methods like whole exome sequencing (WES) or Sanger sequencing.
Main Results:
- Nineteen of 130 surveyed members responded.
- Genetic confirmation of PH was achieved in 80 children over 10 years old, with Alanine-Glyoxylate Aminotransferase (AGXT) gene mutations being most common.
- Most patients required kidney replacement therapy; transplantation was less frequent. Conservative treatment was standard before end-stage kidney disease.
Conclusions:
- Definitive diagnosis of PH in Iran is typically made at an older age.
- Delayed diagnosis is associated with a higher incidence of kidney transplantation.
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