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汉迪戈杜病中的低降钙素血症:一种脊椎骨骺(meta)干骺端发育不良。

Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia.

作者信息

Badadani Mallikarjun, Shetty K Taranath, Agarwal Ss

出版信息

Int J Clin Exp Med. 2010 Apr 25;3(2):115-21.

Abstract

Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal Dysplasias. The calcium homeostasis study was lack in HD. The serum calcium, phosphorus, parathyroid hormone and calcitonin levels after overnight fast state, and 24 hour urinary excretion of calcium and phosphorus were quantified. The decreased level of calcitonin associated with decreased serum total calcium and urinary calcium in HD were observed. The levels of parathyroid hormone, serum phosphorus and urinary phosphorus remain unchanged among HD affected. The Vitamin D3 levels also noticed unchanged in HD affected. Since calcitonin has antiresorption effect on bone, the observed low calcitonin in HD may imply reosrption of bone leading to deformity and causes hypocalcaemia and hypocalciuria. The hypocalcitonemia without change in iPTH associated with hypocalcaemia may be a mutation in Vit D receptor (VDR) or may be an epiphenomenon.

摘要

汉迪戈杜病(HD)是一种骨与关节系统疾病,在印度南部卡纳塔克邦希莫加和奇克马加勒尔两个区的多个村庄中高度流行。该疾病的学名是脊椎骨骺(干骺)发育异常,常染色体显性类型,汉迪戈杜综合征。它已被列入国际骨骼发育异常分类中。HD缺乏钙稳态研究。对过夜禁食状态下的血清钙、磷、甲状旁腺激素和降钙素水平,以及钙和磷的24小时尿排泄量进行了定量分析。观察到HD患者中降钙素水平降低与血清总钙和尿钙降低相关。HD患者的甲状旁腺激素、血清磷和尿磷水平保持不变。HD患者的维生素D3水平也未发现变化。由于降钙素对骨骼有抗吸收作用,HD中观察到的低降钙素可能意味着骨吸收导致畸形,并引起低钙血症和低钙尿症。与低钙血症相关的低降钙素血症且iPTH无变化可能是维生素D受体(VDR)的突变,也可能是一种附带现象。

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