Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
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DOI：
10.1007/s10545-010-9250-z
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发表时间：
2011-02-01
影响因子：
4.2
通讯作者：
Horvath, Rita
中科院分区：
文献类型：
--
作者：
Schara, Ulrike;von Kleist-Retzow, Juergen-Christoph;Horvath, Rita
联合呼吸链缺陷约占线粒体呼吸链缺陷的30%，通常与mtDNA缺失、缺失或点突变有关。然而，联合呼吸链缺陷也可能是由影响线粒体翻译的核基因突变引起的。在这里，我们描述了一个2岁的女孩，谁开发了一个急性，孤立的，严重的肝衰竭与线粒体病理和减少呼吸链酶活性在肝脏和骨骼肌在4个月大。她的肝功能在一个月内明显改善，肝功能检查恢复正常。到目前为止，肝硬化仍然没有任何进一步的并发症。在TRMU基因中鉴定了致病性复合杂合突变。这种情况是少数几种线粒体疾病之一，具有危及生命的发作，在生命后期显示出恢复，因此，这些患者的及时诊断和治疗在临床实践中具有重要意义。我们认为，TRMU缺乏症应考虑在婴儿急性肝病。
Combined respiratory chain deficiency accounts for about 30% of mitochondrial respiratory chain deficiencies and is frequently associated with mtDNA depletion, deletions or point mutations. However combined respiratory chain deficiency may also be caused by mutations in nuclear genes affecting mitochondrial translation. Here we describe a 2-year-old girl, who developed an acute, isolated, severe liver failure with mitochondrial pathology and decreased respiratory chain enzyme activities both in liver and skeletal muscle at 4 months of age. Her liver function improved significantly within a month, liver function tests returned to normal. Liver cirrhosis remained without any further complications so far. Pathogenic compound heterozygous mutations were identified in the TRMU gene. This condition is one of the few mitochondrial disorders with a life-threatening onset showing recovery later in life, therefore a prompt diagnosis and treatment of these patients has great importance in clinical practice. We suggest that TRMU deficiency should be considered in infants with acute liver disease.