与家族性低钙血症性高钙血症相关的自限性新生儿原发性甲状旁腺功能亢进症。
Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia.
作者信息
Wilkinson H, James J
机构信息
Biochemistry Department, York District Hospital.
出版信息
Arch Dis Child. 1993 Sep;69(3 Spec No):319-21. doi: 10.1136/adc.69.3_spec_no.319.
Abstract
A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.
摘要
描述了一名7周大的男孩，其患有严重的生化及放射学表现的新生儿甲状旁腺功能亢进症，到6个月大时已完全缓解。他的母亲血清钙浓度正常，但他的父亲、姑姑和堂兄均因家族性低钙血症性高钙血症而血清钙升高。
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