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Idiopathic infantile hypercalcaemia--a continuing enigma
Insights
Idiopathic infantile hypercalcaemia presents similarly to Williams-Beuren syndrome but has distinct feeding issues. Long-term complications include developmental delays and vascular disease, with a stable incidence in the UK.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Idiopathic infantile hypercalcaemia (IIH) shares clinical features with Williams-Beuren syndrome.
- Understanding IIH is crucial for accurate diagnosis and management in infants.
Purpose of the Study:
- To compare clinical presentations and long-term outcomes of children with IIH and Williams-Beuren syndrome.
- To assess the incidence and morbidity associated with IIH.
Main Methods:
- Retrospective study of 76 children with IIH and 41 with Williams-Beuren syndrome.
- Clinical data comparison focusing on feeding, growth, and associated complications.
Main Results:
- Similarities and differences noted, particularly in feeding problems and failure to thrive.
- Estimated IIH incidence in the UK is stable at ~18 cases/year (1 in 47,000 births).
- Long-term morbidity includes mental handicap, arteriopathy, hypertension, kyphoscoliosis, hyperacusis, and obesity.
Conclusions:
- Further investigation is needed to determine the etiology of hypercalcaemia in IIH.
- While rare, hypercalcaemia recurrence in adolescence can occur.
- Distinguishing IIH from Williams-Beuren syndrome is important for tailored management.
Abstract:
Seventy six children with documented Fanconi-type idiopathic infantile hypercalcaemia were studied and compared with 41 with the Williams-Beuren syndrome. Clinical comparison showed, as expected, very close similarities but also considerable differences, particularly in the severity of feeding problems and the degree of failure to thrive. The estimated incidence of idiopathic infantile hypercalcaemia alone has remained constant for the past 20 years, at approximately 18 cases per year in the United Kingdom (1 per 47 000 total live births). Long term morbidity in these children is mainly due to mental handicap and arteriopathy, but hypertension (29%), kyphoscoliosis (19%), hyperacusis (75%), and obesity (50%) may be added complications. In one child, hypercalcaemia recurred during adolescence but this seems to be excessively rare. More detailed investigation before treatment is required to discover the aetiology of hypercalcaemia in this condition.
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