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Inherited conditions resulting in nephrolithiasis
Bernd Hoppe1, Cristina Martin-Higueras2
1Pediatric Nephrology, University Children's Hospital.
Current Opinion in Pediatrics
|December 3, 2019
Summary
Pediatric urolithiasis (kidney stones) is rising. Early diagnosis of underlying genetic or metabolic diseases is crucial to prevent recurrent stones and kidney damage.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Pediatric urolithiasis prevalence is increasing, leading to more clinic and emergency visits.
- Identifying underlying genetic or metabolic disorders is essential for timely treatment in children.
- Early intervention can prevent recurrent stone formation and chronic kidney disease.
Purpose of the Study:
- To review recent advancements in understanding the genetic basis of pediatric kidney stone diseases.
- To highlight the importance of diagnosing the root cause of urolithiasis in pediatric patients.
- To discuss the implications of genetic discoveries for new treatment strategies.
Main Methods:
- Review of recent genetic research on monogenic kidney stone diseases.
- Analysis of genetic defects associated with hypercalciuria and primary hyperoxaluria.
- Examination of mutations in genes like CYP24A1, SLC34A1, SLC34A1, and the calcium-sensing receptor.
Main Results:
- Genetic basis for several forms of hypercalciuria, including CYP24A1, SLC34A1, and SLC34A3 mutations, identified.
- Mutations in the calcium-sensing receptor gene linked to distinct patterns of hypercalciuria.
- A third gene defect discovered for primary hyperoxaluria, explaining previously unclassified cases.
- New therapeutic targets emerging from genetic insights, with ongoing phase III studies.
Conclusions:
- Kidney stones in children are symptoms of underlying diseases that require diagnosis.
- Genetic discoveries are refining the classification and understanding of pediatric urolithiasis.
- Advances in genetics are paving the way for novel and targeted treatment options.
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