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Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
European Journal of Medical Genetics ( IF 1.6 ) Pub Date : 2020-05-15 , DOI: 10.1016/j.ejmg.2020.103952
Izabel Maryalexandra Rios-Flores 1 , Miguel Ángel Bonal-Pérez 2 , Abril Castellanos-González 3 , Ezequiel Velez-Gómez 4 , Aida M Bertoli-Avella 5 , Lucina Bobadilla-Morales 6 , Christian Peña-Padilla 1 , Valentina Appendini-Andrade 1 , Alfredo Corona-Rivera 6 , Ivón Romero-Valenzuela 1 , Jorge Román Corona-Rivera 6
Affiliation  

Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen. We report a five-year-old male patient who presented a severe episode of acute liver failure (ALF). Exome sequencing identified compound heterozygous pathogenic/likely pathogenic variants in the NGLY1 gene: NM_018297.3:c.1891del, p.(Gln631Serfs*7) in exon 12 and NM_018297.3:c.531dup, p.(Asn178Glnfs*9) in exon 4. Serology for the most frequent viral hepatitis infections, autoimmune panel, and investigations for metabolic or toxic causes were also normal or negative. Hepatic disease resolved favorably after 46 days. Liver function tests and elastography remains normal after a 2-year follow-up. This is the first report of a reversible ALF among patients with NGLY1-CDDG. Although its definitive cause remains unknown, we suggest a direct relation between liver disease and mitochondrial respiratory chain damage in the context of impaired NGLY1 gene function. Further reports are required in order to know the long-term prognosis of ALF in patients with NGLY1-CDDG.



中文翻译:

男性患有NGLY1先天性去糖基化疾病的男性急性肝衰竭。

N-联去糖基化的先天性疾病(CDDG,MIM 615273)是由NGLY1基因的致病变异引起的非常罕见的常染色体隐性遗传疾病。短暂性转氨炎是这些患者中描述的典型肝功能障碍,但也包括新生儿黄疸,肝肿大,脾肿大和脂肪变性。镜下可见肝内胞浆内含物和纤维化。我们报告了一名五岁的男性患者,出现严重的急性肝衰竭(ALF)事件。外显子组测序确定了NGLY1中的化合物杂合致病/可能致病变体基因:外显子12中的NM_018297.3:c.1891del,p。(Gln631Serfs * 7)和外显子4中的NM_018297.3:c.531dup,p。(Asn178Glnfs * 9)。病毒性肝炎最常见的血清学检测小组,对代谢或毒性原因的调查也正常或阴性。肝病在46天后好转。经过2年的随访,肝功能检查和弹性成像仍正常。这是NGLY1-CDDG患者中可逆ALF的首次报道。尽管其确切原因尚不清楚,但我们建议在NGLY1基因功能受损的情况下,肝脏疾病与线粒体呼吸链损伤之间存在直接关系。为了了解NGLY1- CDDG患者ALF的长期预后,还需要进一步的报告。

更新日期:2020-05-15
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