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Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center
Insights
Monogenic urinary lithiasis in Tunisian children is often under-diagnosed. Early screening is crucial due to significant morbidity, especially in high-consanguinity populations.
Area of Science:
- Pediatric Nephrology
- Genetics
- Urology
Background:
- Monogenic urinary lithiasis, though rare, presents a significant diagnostic challenge.
- High consanguinity rates in certain regions may increase the prevalence of these inherited disorders.
- Understanding the clinical spectrum is vital for timely intervention.
Purpose of the Study:
- To characterize the clinical, biochemical, and evolutionary profiles of monogenic urinary lithiasis in Tunisian children.
- To analyze a 25-year cohort in a reference pediatric nephrology service.
Main Methods:
- Retrospective observational study.
- Inclusion criteria: children (≤18 years) with urolithiasis and a confirmed monogenic disease.
- Data collected over 25 years (1996-2020) at Charles Nicolle Hospital, Tunis.
Main Results:
- 66 children were included, with diagnoses including primary hyperoxaluria (44 cases), cystinuria (9 cases), and Lesch Nyhan syndrome (5 cases).
- Other identified disorders: renal tubular acidosis, hereditary xanthinuria, Bartter syndrome, and enzyme deficiencies.
- Six patients developed end-stage renal disease; three died, all from primary hyperoxaluria type 1.
Conclusions:
- Monogenic urinary lithiasis is likely under-diagnosed in Tunisia.
- Systematic screening is essential for early detection and management.
- Prompt diagnosis can mitigate significant morbidity and improve patient outcomes.
Objective:
To describe the clinical, biochemical and evolutive profile of monogenic urinary lithiasis in Tunisian children followed up in a reference service, during a 25 years period.
Methods:
This was a single-center retrospective observational study of children with urolithiasis, conducted in the pediatric nephrology department in Charles Nicolle Hospital, Tunis, Tunisia over 25 years (January 1st, 1996 to December 31, 2020). Children≤18 of age with urolithiasis with or without nephrocalcinosis related to a monogenic disease were included in our study.
Results:
A total of 66 children were included in our study. Patients were 5.92±3.48 years of age at the time of urolithiasis diagnosis, and 5.33±3.66 years of age at the time of the underlying pathology diagnosis. The inherited urolithiasis disorders found in our series were: primary hyperoxaluria in 44 cases, cystinuria in 9 cases, Lesch Nyhan syndrome in 5 cases. Renal tubular acidosis was found in 3 cases, and hereditary xanthinuria in 2 cases. Bartter syndrome, adenine phosphoribosyltransferase deficiency and Hereditary hypophosphatemic rickets with hypercalciuria were found in 1 case each. After an average follow-up of 6.45±3.79 years, six patients were in end-stage renal disease. Three patients had died, all of them being followed for primary hyperoxaluria type 1.
Conclusions:
Monogenic urinary lithiasis, although rare, are most likely under-diagnosed in countries with high consanguinity such as Tunisia. The screening of these diseases seems to be of primary importance because of their significant morbidity.
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