Stefanowicz Marek, Janowska Maria, Pawłowska Joanna, Tylki-Szymańska Anna, Kowalski Adam, Szymczak Marek, Kaliciński Piotr, Jankowska Irena
Department of Pediatric Surgery and Organ Transplantation, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
ERN Transplant Child, 28020 Madrid, Spain.
Children (Basel). 2021 Aug 29;8(9):746. doi: 10.3390/children8090746.
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.
转醛醇酶缺乏症（TALDO；OMIM 606003）是一种罕见的常染色体隐性遗传的戊糖磷酸途径先天性疾病。它是一种早发性多系统疾病，具有畸形特征、贫血、凝血病、血小板减少、肾小管病变、肝脾肿大和终末期肝病。我们报告一例患早发性TALDO的波兰兄弟病例，他们的父母是近亲。该疾病的主要特征是早期严重肝损伤，随后出现肾小管病变。在基础疾病过程中出现了结节性肝纤维化。哥哥肝功能稳定，但由于肝脏肿瘤和疑似肝癌，他符合已故供体肝移植（DDLT）标准。该男孩在14岁时接受了移植。弟弟因终末期肝病符合DDLT标准，并在11岁时接受了移植。目前，我们的两名患者均存活，分别在DDLT后23个月和20个月时移植肝功能正常，身体状况良好。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。需要进行长期随访以评估肝移植对生活质量、生存时间和疾病进程的影响。
