Pronicka E, Rowińska E, Kulczycka H, Lukaszkiewicz J, Lorenc R, Janas R
Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
Pediatr Nephrol. 1997 Feb;11(1):2-6. doi: 10.1007/s004670050221.
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.
本研究旨在描述有“轻度”Lightwood型特发性婴儿高钙血症病史儿童的钙磷及维生素D3代谢异常情况。研究了17名看似健康的2至12岁儿童，他们自婴儿期起就患有长期特发性高钙血症综合征。还纳入了两个参照组（维生素D3中毒/健康组和威廉姆斯组）。尽管长期限制牛奶饮食并限制维生素D3摄入，但研究组每24小时尿钙排泄量为0.117±0.07μmol/kg。与参照组（每小时0.047±0.029和0.067±0.06μmol/kg，P<0.05）相比，自婴儿期起就患有特发性高钙血症的儿童存在明显的高钙尿症。研究组血清25-羟基维生素D3浓度也高于参照组（57.4±15.5对34.6±9.3和22.7±10.5ng/ml）。1,25-二羟基维生素D3水平处于正常上限（45.9±13.1对35.0±8.1和30.0±13.7pg/ml）。超声检查可见非进行性、临床无症状的肾钙质沉着症。特发性婴儿高钙血症血钙正常期持续存在的维生素D3和钙磷代谢紊乱可能是该病的原发性代谢缺陷。导致1,25-二羟基和25-羟基维生素D3代谢产物升高的机制以及这与持续性高钙尿症和肾钙质沉着症之间的关系需要病理生理学解释。
