Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.
Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.
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DOI：
10.3390/children8090746
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发表时间：
2021-08-29
期刊：
影响因子：
--
通讯作者：
Jankowska I
中科院分区：
文献类型：
--
作者：
Stefanowicz M;Janowska M;Pawłowska J;Tylki-Szymańska A;Kowalski A;Szymczak M;Kaliciński P;Jankowska I
转醛缩酶缺乏症（TALDO; OMIM 606003）是戊糖磷酸途径中一种罕见的先天性常染色体隐性错误。它是一种早发性多系统疾病，具有畸形特征、贫血、凝血功能障碍、血小板减少症、小管病变、肝脾肿大和终末期肝病。我们提出一个病例的两个波兰兄弟，出生的近亲父母，与早发TALDO。疾病的主要特征是早期严重肝损伤，随后出现肾小管病变。结节性肝纤维化是在基础疾病过程中发展起来的。大哥肝功能稳定，但因肝脏肿瘤及怀疑肝癌，符合已故供肝移植（DDLT）的条件。这名男孩在14岁时接受了移植手术。弟弟因终末期肝病获得了DDLT的资格，并在11岁时进行了移植。目前，我们的两名患者在DDLT后分别存活了23个月和20个月，移植物功能正常，情况良好。肝移植可以作为TALDO的一种治疗选择，对于同时存在严重慢性和终末期肝病的患者应予以考虑。长期随访是评估肝移植对生活质量、生存时间和病程的影响的必要条件。
Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal-recessive error of the pentose phosphate pathway. It is an early-onset multisystem disease with dysmorphic features, anaemia, coagulopathy, thrombocytopenia, tubulopathy, hepatosplenomegaly and end-stage liver disease. We present a case of two Polish brothers, born to consanguineous parents, with early-onset TALDO. The dominant feature of disease was an early severe liver injury, with subsequent renal tubulopathy. Nodular liver fibrosis developed in the course of the underlying disease. The older brother presented stable liver function, however, he was qualified for deceased donor liver transplantation (DDLT) because of a liver tumour and suspicion of hepatocarcinoma. The boy was transplanted at the age of 14. The younger brother was qualified for DDLT due to end-stage liver disease and transplanted at the age of 11. Currently, both our patients are alive and in a good condition with normal graft function 23 and 20 months after DDLT respectively. Liver transplantation can be a therapeutic option in TALDO and should be considered in patients with coexisting severe chronic and end-stage liver disease. Long term follow-up is necessary to assess the impact of liver transplantation for quality of life, survival time and the course of the disease.
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影响因子：
6.1
作者：
Loeffen, Yvette G. T.;Biebuyck, Nathalie;Bokenkamp, Arend
通讯作者：
Bokenkamp, Arend
DOI：
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发表时间：
2017-01-01
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3.6
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DOI：
10.1007/8904_2013_254
发表时间：
2014-01-01
期刊：
JIMD REPORTS, VOL 12
影响因子：
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作者：
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