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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.
Insights
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.
Introduction:
Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by a heterogeneous presentation that leads to kidney failure and involvement of other organs. The aim of this study was to determine the number of cases with suspected PH in Iran that have had a genetically verified diagnosis.
Methods:
A survey distributed among members of Iranian society of pediatric nephrology (IranSPN) to collect overall data on hyperoxaluria (HOX) in their centers, as well as those who performed whole exome sequencing (WES) or sanger sequencing genetic study. Data is presented as frequency and number blocks.
Results:
Nineteen out of 130 members filled out the questionnaires. About two-thirds of the responders were suspected to have HOX in the presence of recurrent multiple kidney stones. PH was genetically confirmed in 80 children above 10 years. Alanine-Glyoxylate Aminotransferase (AGXT) was the most frequent reported genetic abnormailtiy. The majority of their patients required kidney replacement therapy. Combined or sequential liver- kidney transplantation was less frequent. Conservative treatment was the only therapy applied to all children prior to end-stage kidney disease.
Conclusion:
This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.
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