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The clinical pattern of primary hyperoxaluria in pediatric patient at Queen Rania Abdulla Children Hospital
Reham I Almardini1, Mahdi G Alfarah1, Ghazi M Salaita1
1Pediatric Nephrology Unit, Queen Rania Abdulla Children Hospital, Jordan.
Insights
Primary hyperoxaluria (PHO) in children often presents with kidney stones or hematuria, frequently leading to end-stage renal disease (ESRD). Early diagnosis through family screening and oxalate testing is crucial for PHO management.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Genetics
Background:
- Primary hyperoxaluria (PHO) is a genetic metabolic disorder causing excessive oxalate production.
- It leads to recurrent kidney stones (urolithiasis) and kidney calcification (nephrocalcinosis).
- PHO can progress to end-stage renal disease (ESRD).
Purpose of the Study:
- To describe the clinical presentation and progression to ESRD in pediatric patients with PHO.
- To analyze data from a Jordanian pediatric nephrology clinic.
Main Methods:
- Retrospective review of medical records for PHO patients.
- Data collected from September 2007 to March 2013.
Main Results:
- 70 pediatric patients diagnosed with PHO.
- Median age at presentation was 3 years; 15.7% diagnosed in the first year.
- Common symptoms: hematuria (most frequent), asymptomatic cases (14%).
- At diagnosis: 15.7% had ESRD, 25% impaired renal function, 57% kidney stones, 37% nephrocalcinosis.
Conclusions:
- A high index of suspicion is vital for diagnosing PHO in children with kidney stones or hematuria.
- 24-hour urine oxalate collection is essential for diagnosis.
- Family screening aids early PHO detection.
Introduction:
Hyperoxaluria is a metabolic disorder that can lead to end stage renal disease (ESRD). It can be either inherited or acquired. Primary hyperoxaluria (PHO) is more common and characterized by an excessive production of oxalate leading to recurrent urolithiasis and progressive nephrocalcinosis. Due to the high rate of consanguineous marriage in Jordan this disease is commonly diagnosed in pediatric nephrology clinics. We aimed to demonstrate the clinical pattern and progression to ESRD in pediatric patients with hyperoxaluria at Queen Rania Abdulla Children Hospital.
Methods:
Medical records of all patients followed up in the pediatric nephrology clinic with the diagnosis of PHO during the period between September 2007 and March 2013 were reviewed.
Results:
There were 70 patients with the diagnosis of PHO, 52.9% were males. The median age at presentation was 3 years ± 3 months with the youngest child being two months old. Diagnosis was made in the first year of life in 15.7% of patients. The most common presenting symptom was hematuria, while 14% of patients were asymptomatic and detected by family screening after the diagnosis of an index case. At the time of initial presentation, 15.7% of patients had ESRD and 25% had impaired renal function. Kidney stones were found in 57% of cases and nephrocalcinosis was found in 37%.
Conclusion:
High index of suspicion is needed to diagnose PHO in children presenting with kidney stone or unexplained hematuria. Twenty-four hour urine collection for oxalate are required to make the proper diagnosis. Family screening, when appropriate, is indicated for early detection of PHO.
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