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Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalence and cause
J Lucaya1, G Enriquez, J Nieto
1Department of Radiology, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.
Insights
Renal calcifications are common in children with autosomal recessive polycystic kidney disease (ARPKD), especially in older children. Kidney failure leads to urine acidification defects and hypocitraturia, causing these calcifications.
Area of Science:
- Pediatric Nephrology
- Medical Imaging
- Biochemistry
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder affecting the kidneys.
- Renal calcifications (nephrocalcinosis) are a potential complication in ARPKD, but their prevalence and underlying causes in children are not well-defined.
Purpose of the Study:
- To determine the prevalence of renal calcifications in pediatric patients with ARPKD.
- To investigate metabolic alterations contributing to nephrocalcinosis in this population.
Main Methods:
- Sonography and CT scans were used to assess renal calcifications in nine ARPKD patients.
- Biochemical screening was performed to identify metabolic causes of nephrocalcinosis.
Main Results:
- Seven out of nine ARPKD patients exhibited bilateral renal calcifications on CT.
- Calcification severity correlated with kidney failure; younger patients (<1 year) had fewer or no calcifications.
- All patients with kidney failure showed urine acidification defects and hypocitraturia.
Conclusions:
- Renal calcifications are a frequent finding in older children with ARPKD.
- Hypocitraturia and urine acidification defects, secondary to kidney failure, are key factors in the development of ARPKD-associated nephrocalcinosis.
Objective:
We investigated the prevalence of renal calcifications in children with autosomal recessive polycystic kidney disease and studied the metabolic changes that could cause this complication.
Subjects And Methods:
Nine patients with known autosomal recessive polycystic kidney disease were examined with sonography and CT and screened for biochemical evidence of metabolic causes of nephrocalcinosis.
Results:
CT showed bilateral renal calcifications in seven of the nine patients. The two patients without renal calcifications were less than 1 year old. Four patients had only a few calcifications and three patients had many. The severity of the renal calcifications correlated with the degree of kidney failure. All patients with kidney failure were found to have urine acidification defects. Hypocitraturia was present in all patients.
Conclusion:
Our results show that renal calcifications are common in older children with autosomal recessive polycystic kidney disease. Hypocitraturia and the urine acidification defect resulting from kidney failure are the leading factors in the pathogenesis of the calcifications.