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Hypercalcaemia in association with trisomy 21 (Down's syndrome)
I J Ramage1, A Durkan, K Walker
1The Royal Hospital for Sick Children, Glasgow G3 8SJ, UK.
Insights
Excessive calcium intake in a child with Down syndrome (trisomy 21) led to hypercalcaemia, hypercalciuria, and nephrocalcinosis, causing renal impairment. This case highlights the importance of monitoring calcium intake in children with trisomy 21.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Nutritional Biochemistry
Background:
- Hypercalcaemia, hypercalciuria, and nephrocalcinosis are uncommon in children.
- These findings, with or without renal impairment, have been previously noted in children with Down syndrome (trisomy 21).
- Previous reports lacked detailed nutritional data, hindering understanding of the pathogenesis.
Observation:
- A 4-year-old girl with Down syndrome presented with hypercalcaemia, hypercalciuria, nephrocalcinosis, and renal impairment.
- The patient had a history of prolonged excessive calcium intake.
- Metabolic alkalosis was notably absent.
Findings:
- This case demonstrates a direct link between excessive calcium consumption and the development of hypercalcaemic nephropathy in a child with trisomy 21.
- The findings suggest that genetic predisposition in trisomy 21 may exacerbate the effects of high calcium intake.
- Renal impairment occurred in the absence of metabolic alkalosis, suggesting a distinct pathophysiological pathway.
Implications:
- Clinicians should consider excessive calcium intake as a potential cause of hypercalcaemia and nephrocalcinosis in children, particularly those with trisomy 21.
- Monitoring calcium levels and dietary intake is crucial for managing children with Down syndrome to prevent renal complications.
- Further research is needed to elucidate the specific mechanisms underlying calcium metabolism abnormalities in trisomy 21.
Abstract:
The combination of hypercalcaemia, hypercalciuria, and nephrocalcinosis with and without renal impairment is rare in paediatric clinical practice. However, this constellation of findings has been reported in three children with trisomy 21, but the absence of detailed nutritional data has failed to clarify the underlying pathogenesis. This report describes a 4 year old girl with trisomy 21 who was found coincidentally to have hypercalcaemia, hypercalciuria, nephrocalcinosis, and renal impairment in the absence of metabolic alkalosis, following a prolonged period of excessive calcium intake.