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Idiopathic hypercalciuria and hyperuricosuria: family prevalence of nephrolithiasis
C Polito1, A La Manna, B Nappi
1Clinica Pediatrica III, Naples, Italy. bruno.nobili@unina2.it
Insights
Children with hypercalciuria (HC) and hyperuricosuria (HU) show a strong family history of kidney stones. This familial link is not associated with obesity or increased stone formation in these children.
Area of Science:
- Pediatric Nephrology
- Genetics and Urology
Background:
- Nephrolithiasis, or kidney stones, can have genetic predispositions.
- Hypercalciuria (HC) and hyperuricosuria (HU) are metabolic abnormalities linked to kidney stone formation in children.
Purpose of the Study:
- To investigate the prevalence of a family history of nephrolithiasis in children with hypercalciuria and/or hyperuricosuria.
- To explore the association between family history, obesity, and stone formation in pediatric patients with HC and/or HU.
Main Methods:
- A case-control study comparing family history of nephrolithiasis in children with HC, HU, HC plus HU, and a control group.
- Assessment of body mass index (BMI) and presence of calculi/microcalculi via sonography.
- Statistical analysis to compare prevalence rates and associations.
Main Results:
- Significantly higher prevalence of family history of nephrolithiasis in HC, HU, and HC plus HU groups (69-78%) compared to controls (22%).
- No significant difference in stone or microcalculi presence based on family history of nephrolithiasis.
- Obesity (BMI >95th percentile) was uncommon and did not influence the association between familial nephrolithiasis and HC.
Conclusions:
- Children with hypercalciuria and/or hyperuricosuria exhibit a strong familial aggregation of nephrolithiasis.
- Family history of kidney stones in these children is not linked to increased stone burden or obesity.
- Further research into genetic factors influencing pediatric nephrolithiasis is warranted.
Abstract:
We studied the prevalence of a history of nephrolithiasis in first- and second-degree relatives of 74 children with hypercalciuria (HC), 61 with hyperuricosuria (HU), and 41 with HC plus HU, and in a control population of 261 children with different diseases. Family history of nephrolithiasis was found in 69% of HC, 75% of HU, 78% of HC plus HU, and 22% of control patients. The prevalence was not different among HC, HU, and HC plus HU groups, but was significantly higher in each study group than the control group (P=0.0001). Body mass index >95th percentile was found in only 4.7% of the patients with HC or HC plus HU. Calculi (>3 mm in diameter) were present in 8.9% of the patients with a family history of nephrolithiasis and in 9.4% of those with no family history (P=0.85). Microcalculi (<3 mm in diameter) were found by sonography in 56.6% of the patients with and in 53.3% of those without a family history of nephrolithiasis (P=0.83). Children with HC and/or HU have a strong familial prevalence of nephrolithiasis. Obesity does not seem to affect the association of familial nephrolithiasis and hypercalciuria in children. The presence of nephrolithiasis in families of children with HC and/or HU is not associated with a higher rate of formation of calculi or microcalculi.