Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency

Abstract

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.

Chances of Liver Transplantation in a Patient With Transaldolase Deficiency Complicated by Hepatopulmonary Syndrome

“…However, liver transplantation does not reverse pulmonary vessel malformations [9] and may be of limited interest in the case of multi-organ dysfunction besides the risk of recurrence [5,10]. Moreover, TD-associated end-stage diseases expose to a high risk of peri-and postoperative complications following liver transplantation including graft failure, infection, and progressive renal failure, which imposes early and multi-disciplinary discussion to consider such procedure [5]. Like any inherited disorder, early diagnosis and familial screening for TD are paramount to provide a greater chance of disease slowdown and adequate familial planning.…”

“…To date, there is no cure for TD, and the management consists of non-specific treatment of associated defects, such as surgical correction of cardiac abnormalities, supportive symptomatic treatment including supplementation with calcium and vitamin D, red blood cells and platelets transfusions, albumin therapy, and variceal band ligation in case of esophageal varices [ 1 , 5 ]. The prognosis, therefore, depends on the management of disease complications mainly liver failure.…”

“…Stefanowicz et al reported the case of two Polish brothers who had TD with liver nodular fibrosis indicating severe liver injury, in association with renal tubulopathy. Both brothers benefitted from liver transplantation, at the age of 11 and 14 years, with satisfactory functional outcomes for up to 23 months of post-transplantation follow-up [ 5 ]. Currently, the literature includes at least six cases of TD that have been transplanted (Table 2 ).…”

“…Currently, the literature includes at least six cases of TD that have been transplanted (Table 2 ). However, liver transplantation does not reverse pulmonary vessel malformations [ 9 ] and may be of limited interest in the case of multi-organ dysfunction besides the risk of recurrence [ 5 , 10 ]. Moreover, TD-associated end-stage diseases expose to a high risk of peri- and postoperative complications following liver transplantation including graft failure, infection, and progressive renal failure, which imposes early and multi-disciplinary discussion to consider such procedure [ 5 ].…”

“…TD disease presentation varies between patients, combining multiple scenarios including end-stage liver disease, renal tubular dysfunction, coagulopathy, anemia, thrombocytopenia, congenital heart abnormalities, and hormonal disorders [ 5 ]. On the other hand, TD is distinct in its dysmorphic features that include a triangular-shaped face, low-set ears, wide mouth, and thin lips, with the most prominent skin feature being wrinkled skin (cutis-laxa) [ 6 ].…”