Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
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.
Department of Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Enke
E
Grabhorn
Konstantinos
K
Tsiakas
Uta
U
Herden
Lutz
L
Fischer
Peter
P
Freisinger
Thorsten
T
Marquardt
Rainer
R
Ganschow
Andrea
A
Briem-Richter
René
R
Santer
D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000209:etiology / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D028361:Mitochondrial Diseases / Q000401:mortality / Q000503:physiopathology / Q000601:surgery; D013997:Time Factors; D016896:Treatment Outcome