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Primary hyperoxaluria type 1 in Tunisian children
Tahar Gargah1, Nourchene Khelil, Gharbi Youssef
1Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia. kitomora@yahoo.fr
Insights
Primary hyperoxaluria type 1 in children often presents with kidney damage and stones. Pyridoxine treatment showed benefit in some cases, indicating potential for improved outcomes.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Genetics
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic metabolic disease.
- It leads to excessive oxalate production and deposition in kidneys and other organs.
- Early diagnosis and management are crucial to prevent severe complications.
Purpose of the Study:
- To investigate the clinical, biological, and radiological characteristics of PH1 in Tunisian children.
- To evaluate the diagnostic methods and treatment outcomes in this cohort.
- To identify factors influencing the disease progression and prognosis.
Main Methods:
- Retrospective study of 44 Tunisian children diagnosed with PH1 between 1995 and 2009.
- Diagnosis confirmed by urinary oxalate excretion, infrared spectroscopy of stones, or kidney biopsies.
- Assessment of clinical presentation, renal function, nephrocalcinosis, and response to pyridoxine therapy.
Main Results:
- The male-to-female ratio was 1:2, with a median age at diagnosis of 5.75 years.
- Nephrocalcinosis was universal; 27% of patients had end-stage renal disease at diagnosis.
- Pyridoxine responsiveness (≥60% oxalate reduction) was observed in 27% of cases.
- Common manifestations included nephrocalcinosis, urolithiasis, and renal failure.
Conclusions:
- PH1 in Tunisian children typically presents with significant renal involvement.
- Pyridoxine sensitivity is associated with a better clinical outcome.
- Comprehensive management strategies are essential for improving the prognosis of PH1.
Abstract:
To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009. The diagnosis was established by quantitative urinary oxalate excretion. In patients with renal impairment, the diagnosis was made by infrared spectroscopy of stones or kidney biopsies. The male-to-female ratio was 1:2. The median age at diagnosis was 5.75 years. About 43% of the patients were diagnosed before the age of five years with initial symptoms dominated by uremia. Four patients were asymptomatic and diagnosed by sibling screenings of known patients. Nephrocalcinosis was present in all the patients; it was cortical in 34%, medullary in 32%, and global in 34%. At diagnosis, 12 (27%) children were in end-stage renal disease. Pyridoxine response, which is defined by a reduction in urine oxalate excretion of 60% or more, was obtained in 27% of the cases. In the majority of patients, the clinical expression of primary hyperoxaluria type 1 was characterized by nephrocalcinosis, urolithiasis, and renal failure; pyridoxine sensitivity was associated with better outcome.
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