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首页> 美国卫生研究院文献>JIMD Reports >Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis
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Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

机译：曼尼托巴门诺石围生儿低磷酸盐血症的结果：回顾性队列分析

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摘要

Hypophosphatasia (HPP) is the metabolic bone disease caused by loss-of-function mutation within the gene that encodes the “tissue nonspecific” isoenzyme of alkaline phosphatase (TNSALP). Perinatal HPP is usually fatal due to respiratory insufficiency, and infantile HPP often has a similar outcome although no formal study into the natural history of these severe forms of HPP has been undertaken. We reviewed our 80-year (1927–2007) cohort of 15 Canadian patients with perinatal HPP. All had Mennonite heritage. Family linkage studies indicated that nine were homozygous for a TNSALP disease allele, likely Gly334Asp. Three patients had parents who were carriers for the Gly334Asp allele by mutation analysis. One patient was confirmed by mutation analysis to be homozygous for the TNSALP Gly334Asp mutation. One patient who had only one Mennonite parent was a genetic compound for the Gly334Asp mutation and the Val382Ile mutation. This patient’s sibling was also affected. All 15 patients had profound skeletal hypomineralization, severe rickets, and respiratory insufficiency. All died by 9 months of age, usually soon after birth, from pulmonary failure.
机译：低磷血症（HPP）是由碱性磷酸酶（TNSALP）的“组织非特异性”同工酶的基因内功能丧失突变引起的代谢性骨病。围产期HPP通常由于呼吸功能不全而致死，尽管尚未对这些严重形式的HPP的自然史进行正式研究，但婴儿期HPP往往具有相似的结局。我们回顾了我们的15位围产期HPP患者的80年（1927-2007年）队列。所有人都有门诺派的遗产。家庭联系研究表明，TNSALP疾病等位基因可能是Gly334Asp是纯合子。通过突变分析，三名患者的父母是Gly334Asp等位基因的携带者。通过突变分析确认一名患者是TNSALP Gly334Asp突变纯合子。一位只有一名Mennonite父母的患者是Gly334Asp突变和Val382Ile突变的遗传化合物。该患者的兄弟姐妹也受到了影响。所有15例患者均患有严重的骨骼矿物质不足，严重的病和呼吸功能不全。所有这些患者通常在出生后不久就死于9个月大，死于肺衰竭。

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