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Increased renal medullary echogenicity in patients with Williams syndrome
1Department of Radiology, Montreal Children's Hospital, McGill University, Quebec, Canada.
Insights
Williams syndrome patients may develop nephrocalcinosis, a kidney condition. Renal ultrasound can help identify this complication, especially in infants with hypercalcemia.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Diagnostic Imaging
Background:
- Williams syndrome is a genetic disorder associated with various medical issues.
- Peripheral artery stenosis and dysmorphic facial features are characteristic of Williams syndrome.
- Transient infantile hypercalcemia is an occasional finding in children with Williams syndrome.
Purpose of the Study:
- To investigate the incidence of nephrocalcinosis in children with Williams syndrome.
- To determine the relationship between infantile hypercalcemia and nephrocalcinosis in this population.
- To evaluate the utility of renal ultrasound in detecting renal abnormalities in Williams syndrome.
Main Methods:
- Retrospective analysis of abdominal ultrasound examinations in 25 children with Williams syndrome.
- Assessment of renal medullary echogenicity for signs of nephrocalcinosis.
- Correlation of ultrasound findings with documented history of infantile hypercalcemia.
Main Results:
- Five out of 25 children (20%) exhibited increased renal medullary echogenicity, indicative of nephrocalcinosis.
- Nephrocalcinosis findings on ultrasound remained stable over time.
- Two children with nephrocalcinosis had a history of documented infantile hypercalcemia.
- No patient with normal infant serum calcium levels developed nephrocalcinosis.
Conclusions:
- Nephrocalcinosis is a potential renal complication in children with Williams syndrome.
- Infantile hypercalcemia may be a risk factor for developing nephrocalcinosis in Williams syndrome.
- Renal ultrasound is a valuable tool for identifying nephrocalcinosis and may indirectly indicate the incidence of infantile hypercalcemia in Williams syndrome.
Abstract:
Williams syndrome is characterized by peripheral artery stenosis such as supravalvular aortic stenosis, a distinctive dysmorphic facies, mental retardation and occasionally by transient infantile hypercalcemia. Twenty-five children with this syndrome underwent abdominal ultrasound examinations in our institution between 1983-1988. Five showed an increase in the renal medullary echogenicity consistent with medullary nephrocalcinosis. The echogenicity did not change with time. Two of the five had documented hypercalcemia in infancy. The other three did not have calcium measurements in infancy. No patient with normal serum calcium measurements during infancy developed nephrocalcinosis. Renal ultrasound may add information as to the incidence of infantile hypercalcemia in Williams syndrome.