Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features
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DOI：
10.1016/j.cca.2016.01.021
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发表时间：
2016-05-01
影响因子：
5
通讯作者：
Xia, Wei-bo
中科院分区：
文献类型：
--
作者：
Wu, Bo;Jiang, Yan;Xia, Wei-bo
背景资料：颅后骺端发育不良（Craniometaphyseal dysplasia，CMD）是一种罕见的遗传性疾病，其特征是颅面骨进行性硬化和长骨干骺端增宽，生化指标大多正常。为了从生化角度进一步了解该病，我们报告了一例生化指标明显异常的CMD病例。病例报告：一名1岁男孩被转诊到我们的诊所。生化检查显示碱性磷酸酶（MP）和甲状旁腺激素（PTE）明显升高，轻度低钙血症和低磷血症。此外，核因子κ B受体激活剂配体（RANKL）水平显著升高，但I型胶原β-C-末端肽（β-CTX）浓度正常。他最初被怀疑患有佝偻病，因为放射检查也显示他的长骨骨骺变宽。补充钙和骨化三醇可减轻生化异常。然而，患者逐渐发展成与佝偻病不一致的骨质疏松症。考虑到他同时表现为面瘫和鼻塞症状，怀疑诊断为颅骺发育不良，随后通过先证者及其家族ANKH的突变分析得到证实，显示为一种新生杂合突变（C1124- 1126 delCCT）。结论：本研究提示，CMD患者可出现明显的生化异常和佝偻病样改变，补充钙剂和骨化三醇可减轻生化异常。此外，尽管早期破骨细胞分化因子在CMD患者中被激发，但破骨细胞的活性仍然是惰性的（C）2016由Elsevier B. V.
Background: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes.Case report: A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (MP) and parathyroid hormone (PTE), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal beta-C-terminal telopeptide of type I collagen (beta-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9.Conclusions: Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert (C) 2016 Published by Elsevier B.V.