Oral Calcium-loading Test in Infancy, with Particular Reference to Idiopathic Hypercalcaemia

Barr, D. G. D.; Forfar, J. O.

doi:10.1136/bmj.1.5642.477

Cited by 31 publications

(13 citation statements)

References 16 publications

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“…Recurrences of hypercalcaemia in response to milk and vitamin D intake were described in the 1960s [12,13]. In another study, we demonstrated an exaggerated increase in serum 1,25(OH)2vitamin D3 concentrations in response to exogenous PTH administration in normocalcaemic children several years after a hypercalcaemic episode [3].…”

Section: Discussionmentioning

confidence: 88%

Persistent hypercalciuria and elevated 25-hydroxyvitamin D 3 in children with infantile hypercalcaemia

Pronicka

Rowińska

Kulczycka

et al. 1997

Pediatric Nephrology

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The aim of the study was to characterize abnormalities of calcium-phosphate and vitamin D3 metabolism in children with a past history of "mild" Lightwood-type idiopathic infantile hypercalcaemia. Seventeen seemingly healthy children aged 2-12 years, with long-term idiopathic hypercalcaemic syndrome since infancy were studied. Two reference groups were also included (vitamin D3 intoxication/healthy and Williams groups). Despite a long-term milk-restricted diet and a restricted vitamin D3 intake, urinary calcium excretion in the study group was 0.117 +/- 0.07 mumol/kg per 24 h. Compared with the reference groups (0.047 +/- 0.029 and 0.067 +/- 0.06 mumol/kg per 24 h, P < 0.05), there was significant hypercalciuria in the children with idiopathic hypercalcaemia since infancy. Serum concentrations of 25-hydroxyvitamin D3 in the study group were also elevated compared with the reference groups (57.4 +/- 15.5 vs. 34.6 +/- 9.3 and 22.7 +/- 10.5 ng/ml). 1,25-Dihydroxyvitamin D3 levels were at the upper limit of normal (45.9 +/- 13.1 vs. 35.0 +/- 8.1 and 30.0 +/- 13.7 pg/ml). Non-progressive, clinically silent nephrocalcinosis was visible on ultrasound examinations. The disturbances of vitamin D3 and calcium-phosphate metabolism persistent in the normocalcaemic phase of idiopathic infantile hypercalcaemia may be a primary metabolic defect of the condition. The mechanisms leading to elevation of metabolites of 1,25-dihydroxy- and 25-hydroxyvitamin D3 and the relationship between this and persistent hypercalciuria and nephrocalcinosis need pathophysiological explanation.

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Section: Discussionmentioning

confidence: 88%

Persistent hypercalciuria and elevated 25-hydroxyvitamin D 3 in children with infantile hypercalcaemia

Pronicka

Rowińska

Kulczycka

et al. 1997

Pediatric Nephrology

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“…It is very difficult to verify the diagnosis in patients after the age of three. A conjunctival biopsy with a subsequent staining procedure for calcium and examination by electron microscopy is a diagnostic clue when compared with the clinical symptoms, including calcium loading test as suggested by Barr and Forfar [1969], Regarding the discussion of the different morphology of intra-and extracellular hydroxyapatite crystals, as well as the significance of the values of serum calcium, serum phosphorus and the susceptibility of the cell membrane to hormones and vitamins, reference is made to J ensen [1975],…”

Section: Discussionmentioning

confidence: 99%

Ocular Pathology in the Elfin Face Syndrome (The Fanconi-Schlesinger Type of Idiopathic Hypercalcaemia of Infancy)

Jensen¹,

Warburg²,

Dupont³

1976

Ophthalmologica

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“…Studies have suggested that the hypercalcemia is primarily due to increased absorption of calcium from the intestines (1)(2)(3), but this has not been shown definitively. Vitamin D plays a critical role in the regulation of intestinal calcium absorption and has been implicated in a host of other biological processes (4).…”

mentioning

confidence: 96%

Genetic Defect inCYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

Dauber

Nguyen

Sochett

et al. 2012

The Journal of Clinical Endocrinology & Metabolism

114

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Oral Calcium-loading Test in Infancy, with Particular Reference to Idiopathic Hypercalcaemia

Cited by 31 publications

References 16 publications

Persistent hypercalciuria and elevated 25-hydroxyvitamin D 3 in children with infantile hypercalcaemia

Persistent hypercalciuria and elevated 25-hydroxyvitamin D 3 in children with infantile hypercalcaemia

Ocular Pathology in the Elfin Face Syndrome (The Fanconi-Schlesinger Type of Idiopathic Hypercalcaemia of Infancy)

Genetic Defect inCYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

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