Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Abstract

Deoxyguanosine kinase (DGUOK) deficiency is a well-known cause of hepatocerebral mitochondrial DNA depletion syndromes, which include a broad spectrum of clinical presentations. Affected patients often develop life-threatening liver failure, but the benefits of liver transplantation (LT) are controversial because of the frequently severe neurological involvement due to the underlying mitochondrial disease. We describe the long-term clinical course of 2 patients from our institution and provide an update on their outcomes after LT with this condition. Another 12 pediatric patients were identified through a systematic search of the literature. All 14 reported patients underwent transplantation in infancy despite mild to moderate neurological impairment in some cases. The 2 DGUOK-deficient patients from our center displayed liver failure and mild to moderate neurological involvement. At the time of this writing, they had been followed for 5 and 8 years after LT, both patients were alive, and they had only mild neurological symptoms. Three of the 12 patients identified through the literature review survived for a long time (17, 12, and 23 years); 8 died during early follow-up; and for 1 patient, no follow-up information was available. The 1-year survival rate was 64%; 36% survived for more than 5 years. The long-term survivors had good quality of life. In conclusion, although survival after LT for DGUOK deficiency is lower than survival after LT for other indications, a significant proportion of patients benefit from LT with long-term survival and a stable neurological situation despite initial neurological abnormalities. Nevertheless, a decision to carry out LT for patients with DGUOK deficiency remains difficult because neurological symptoms may occur and worsen after LT despite their absence before transplantation.

• Authors: Enke Grabhorn, Konstantinos Tsiakas, Uta Herden, Lutz Fischer, Peter Freisinger, Thorsten Marquardt, Rainer Ganschow, Andrea Briem-Richter, René Santer
• Journal: Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society (Liver Transpl) Vol. 20 Issue 4 Pg. 464-72 (Apr 2014) ISSN: 1527-6473 [Electronic] United States
• PMID: 24478274 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2014 American Association for the Study of Liver Diseases.

Topics

• Female
• Follow-Up Studies
• Humans
• Infant
• Liver Diseases (etiology, surgery)
• Liver Transplantation
• Male
• Mitochondrial Diseases (mortality, physiopathology, surgery)
• Time Factors
• Treatment Outcome