Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome.
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DOI：
10.7759/cureus.35150
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发表时间：
2023-02
期刊：
影响因子：
--
通讯作者：
Alsaearei A
中科院分区：
文献类型：
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作者：
Fallata E;Alamri AM;Alrabee HA;Alghamdi AA;Alsaearei A
Eyaid综合征或转醛醇酶缺乏症（TD）（OMIM 606003）是一种罕见的常染色体隐性遗传性先天性代谢缺陷。在这份报告中，我们描述的情况下，一个8岁的沙特女孩的历史，肝脾肿大，因为婴儿，谁提出了一个短暂的咳嗽和发绀恶化的历史急诊科。除了肝脾肿大外，她还患有生长迟缓、面部畸形、心脏缺陷、中性粒细胞减少症和血小板减少症。一项彻底的调查导致了肝病综合征的诊断，全外显子组测序显示TALDO1基因中的纯合移码变异，c.793del，p.Gln265fs。因此，该患者被诊断为TD合并肝肺综合征，并讨论了肝移植的指征。
Eyaid’s syndrome or Transaldolase Deficiency (TD) (OMIM 606003) is a rare autosomal recessive inborn error of metabolism. In this report, we describe the case of an eight-year-old Saudi girl with a history of hepatosplenomegaly since infancy, who presented to the emergency department for a short history of cough and worsening cyanosis. She had growth retardation, facial dysmorphia, cardiac defect, neutropenia, and thrombocytopenia, besides hepatosplenomegaly. A thorough investigation led to the diagnosis of hepatopulmonary syndrome and whole exome sequencing showed a homozygous frameshift variant in the TALDO1gene, c.793del, p.Gln265fs. Thus, the patient was diagnosed with TD complicated with hepatopulmonary syndrome, and the indication of liver transplantation was discussed.
DOI：
10.3390/children8090746
发表时间：
2021-08-29
期刊：
Children (Basel, Switzerland)
影响因子：
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作者：
Stefanowicz M;Janowska M;Pawłowska J;Tylki-Szymańska A;Kowalski A;Szymczak M;Kaliciński P;Jankowska I
通讯作者：
Jankowska I