低磷酸酶
碱性磷酸酶
错义突变
内分泌学
肾钙质沉着症
内科学
先天性代谢错误
颅缝病
医学
外显子
骨化
突变
肾
生物
基因
遗传学
解剖
生物化学
酶
作者
Christian Stoll,Michael A. Fischbach,J Terzic,Yves Alembik,Vuillemin Mo,Étienne Mornet
出处
期刊:PubMed
日期:2002-01-01
卷期号:13 (3): 289-95
被引量:8
摘要
Hypophosphatasia is a rare autosomal recessive inborn error of metabolism characterized by a defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutation in a patient affected by infantile hypophosphatasia. This boy was the first child of non affected, non related parents. At 1 month of age he presented with palsy of the left upper limb with hypotonia. Length was - 2SD. The anterior fontanel was large. There was a markedly decreased ossification of all bones. All limbs were shortened. Ultrasonographic examination of the kidneys showed nephrocalcinosis. Level of alkaline phosphatases was decreased in the child as well as in the parents. Bone density was decreased. At 2 years of age development was delayed. Weight was - 3,5 SD and OFC - 3SD. The child had craniosynostosis. Molecular studies showed 2 missense mutations, both in exon 6 of the TNSALP gene.
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