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[Nephrolithiasis and nephrocalcinosis in children and adolescents]
Bernd Hoppe1, Cristina Martin-Higueras2, Nina Younsi3
1Kindernierenzentrum Bonn, Deutsches Hyperoxaluriezentrum, Im Mühlenbach 2b, 53127, Bonn, Deutschland. Bhoppe@hyperoxaluria-center.com.
Insights
Kidney stones are increasingly common, especially in children. Early diagnosis and genetic testing are crucial to prevent serious complications like kidney failure and manage recurrent stone episodes effectively.
Area of Science:
- Pediatric Nephrology
- Urology
- Medical Genetics
Background:
- Nephro- or urolithiasis (kidney stones) is a prevalent condition with increasing incidence in both pediatric and adult populations.
- Genomic studies suggest higher prevalence rates than previously diagnosed, with monogenic causes identified in 30% of pediatric and 10% of adult cases.
- While a single stone episode may seem incidental, underlying conditions must be ruled out in pediatric patients.
Purpose of the Study:
- To detail the comprehensive evaluation and management strategies for pediatric kidney stone disease.
- To emphasize the importance of early diagnosis in preventing disease recurrence and severe outcomes.
- To highlight the role of genetic diagnostics in identifying underlying causes of nephrolithiasis in children.
Main Methods:
- Analysis of 24-hour urine samples or multiple spot urine samples for pathological evidence.
- Mandatory stone analysis for all removed calculi.
- Directed genetic diagnostics based on clinical and biochemical findings.
- Ultrasonography as the primary imaging modality.
- Minimally invasive surgical approaches for symptomatic stones, with careful consideration for non-operative management.
- Family history and workup upon diagnosis of a specific monogenic condition.
Main Results:
- Urine and stone analysis, coupled with genetic testing, aids in identifying the underlying pathology of kidney stones.
- Ultrasonography is effective for diagnosis, and minimally invasive procedures are preferred for symptomatic stones.
- Family screening is essential once a specific diagnosis is established in an index patient.
Conclusions:
- Early diagnosis of kidney stones in children is critical to prevent recurrence and avoid severe consequences such as renal failure.
- Standard treatments like hyperhydration and alkali citrate therapy can help prevent recurrences.
- Emerging therapeutic options offer improved prospects for managing stone diseases, underscoring the importance of timely diagnosis.
Background:
Nephro- or urolithiasis is a common disease. The prevalence of the disease is increasing in both pediatric and adult patients. The genomic calculation of prevalence may reveal higher levels than the previous diagnosis rates. Monogenic kidney stone disease has been identified in 30% of pediatric and 10% of adult patients.
Objectives:
Even if it seems legitimate to assume that there is no specific underlying disease in the case of a one-time stone episode, such a disease must be excluded in the pediatric patient. Therefore, the present study discusses in detail the evaluation and treatment of kidney stones in children.
Methods:
Repeated analysis of 24 h urine samples, or multiple spot urine samples in infants and young children, usually provides evidence of the underlying pathology. In addition, any stone removed should be analyzed. These findings are followed by directed genetic diagnostics. Ultrasonography is the preferred diagnostic method. For symptomatic stones, a minimally invasive method of stone removal is chosen if possible, but not every stone needs to be removed. Family workup must be performed, when a specific diagnosis is made in an index case.
Conclusion:
Early diagnosis is important to avoid recurrences despite the few treatment options available. Delayed diagnosis can have catastrophic consequences for patients (e.g., renal failure). Standard treatment with hyperhydration and alkali citrate treatment alone often helps prevent recurrences. New therapeutic options give hope that stone diseases will become more treatable. Finally, early diagnosis often avoids problematic courses.
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