Severe Deoxyguanosine Kinase Deficiency in Austria

Waich, Stephanie; Roscher, Anne; Brunner‐Krainz, Michaela; Cortina, Gérard; Köstl, Gerhard; Feichtinger, René G.; Entenmann, Andreas; Müller, Thomas; Knisely, A. S.; Mayr, Johannes A.; Janecke, Andreas; Vodopiutz, Julia

doi:10.1097/mpg.0000000000002149

Cited by 16 publications

(14 citation statements)

References 25 publications

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“…After screening titles and abstracts, 563 articles were retrieved for full-text evaluation. Ultimately, 67 non-overlapping studies [ 11 , 12 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 ,…”

Section: Resultsmentioning

confidence: 99%

Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review

Kakos¹,

Ziogas

Demiri

et al. 2022

Cancers

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Liver transplantation (LT) is the only potentially curative option for children with unresectable hepatocellular carcinoma (HCC). We performed a systematic review of the MEDLINE, Scopus, Cochrane Library, and Web of Science databases (end-of-search date: 31 July 2020). Our outcomes were overall survival (OS) and disease-free survival (DFS). We evaluated the effect of clinically relevant variables on outcomes using the Kaplan–Meier method and log-rank test. Sixty-seven studies reporting on 245 children undergoing LT for HCC were included. DFS data were available for 150 patients and the 1-, 3-, and 5-year DFS rates were 92.3%, 89.1%, and 84.5%, respectively. Sixty of the two hundred and thirty-eight patients (25.2%) died over a mean follow up of 46.8 ± 47.4 months. OS data were available for 222 patients and the 1-, 3-, and 5-year OS rates were 87.9%, 78.8%, and 74.3%, respectively. Although no difference was observed between children transplanted within vs. beyond Milan criteria (p = 0.15), superior OS was observed in children transplanted within vs. beyond UCSF criteria (p = 0.02). LT can yield favorable outcomes for pediatric HCC beyond Milan but not beyond UCSF criteria. Further research is required to determine appropriate LT selection criteria for pediatric HCC.

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Section: Resultsmentioning

confidence: 99%

Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review

Kakos¹,

Ziogas

Demiri

et al. 2022

Cancers

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“…These cases, including ours, support LT in the absence of significant neurological abnormalities, for patients with DGUOK deficiency in liver failure. Additionally, the last case as well as ours received living‐related LT demonstrating that parents who may be carriers can also serve as donors 3 . Although the parents are the most readily available donors, and often the most willing to donate to their child, more distant relatives should be considered for alternatives and if possible unrelated donors 1 …”

Section: Discussionmentioning

confidence: 77%

“…Additionally, Waich et al reported a case of an infant with hepatocellular carcinoma who underwent living donor LT from her mother at 8 months of age, before the DGUOK diagnosis was made. At 36 months of age, the patient had normal psychomotor development 3 . These reports demonstrate that the symptoms alone are not sufficient to determine the outcome of LT as cases with neurological involvement had varied outcomes between no neurological deterioration, reversed neurological deterioration, severe neurological deterioration, and even death.…”

Section: Discussionmentioning

confidence: 89%

Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?

Hassan

Mahmoud

Mohammed

et al. 2020

Pediatric Transplantation

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DGUOK deficiency is an autosomal recessive mitochondrial disorder characterized by hepatic and neurological manifestations. In patients with liver failure, the decision to perform LT can be difficult due to the likelihood of progressive neurological disease. We present a case of a 9-month-old boy who had DGUOK deficiency (E227K/ R118H genotype) intact neurological status and liver failure. His MRI indicated extensive white matter changes, which created hesitation to perform LT. After a multidisciplinary evaluation, he underwent LT from a living donor at 11 months of age. Six years post-transplant, he has had no significant complications and no progression of neurological symptoms. Our case supports that even in the presence of neurological MRI findings, but in the absence of significant neurological symptoms, LT represents a viable option in DGUOK-deficient patients who have the E227K/R118H mutation combination along with liver failure. K E Y W O R D SDGUOK, liver failure, living donor, pediatric liver transplantation

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“…In addition to the two patients who initially presented with HCC in this study, three MPV17-deficient patients developed HCC 27,35,37 . HCC was also observed in DGUOK-deficient patients 19,29 . It is presumed that dNTP imbalance is associated tumorigenesis but much remains to be clarified about the association between carcinoma and MTDPS 40 VUS, variant of unknown significance; LT, liver transplantation Table 6.…”

Section: Discussionmentioning

confidence: 88%

“…However, no significant differences in body weight were noted between these two groups in the postnatal period, suggesting that MPV17-deficient patients had marked postnatal growth restrictions compared to non-MPV17 patients. Previous studies have reported that low birth weight was observed in 20-80% of patients with DGUOK mutations and also in patients with POLG mutations [15][16][17][18][19][20][21] . However, very few studies have reported MPV17-deficient patients exhibiting intrauterine growth restrictions (IUGR) 15,[21][22][23] .…”

Section: Discussionmentioning

confidence: 95%

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation

Shimura

Kuranobu

Ogawa-Tominaga

et al. 2020

Preprint

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BackgroundHepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver transplantation (LT) remains controversial due to poor outcomes associated with extrahepatic symptoms. The purposes of this study were to clarify the current clinical and molecular features of hepatocerebral MTDPS and to evaluate outcomes LT in MTDPS patients in Japan.ResultsWe retrospectively assessed the clinical and genetic findings, as well as the clinical courses, of 23 hepatocerebral MTDPS patients from a pool of 999 patients who were diagnosed with mitochondrial diseases between 2007 and 2019. Causative genes were identified in 20 of 23 patients: MPV17 (n=13), DGUOK (n=4), POLG (n=1), MICOS13 (n=1), and TWNK (n=1). Eight MPV17-deficient patients harbored c.451dupC and all four DGUOK-deficient patients harbored c.143-307_170del335. The most common initial manifestation was failure to thrive (n=13, 56.5%). The most frequent liver symptom was cholestasis (n=21, 91.3%). LT was performed on 11 patients, including eight MPV17-deficient and two DGUOK-deficient patients. Four patients, including one with mild intellectual disability, survived; seven who had remarkable neurological symptoms before LT died. Five of the MPV17-deficient survivors had either c.149G>A or c.293C>T.ConclusionsMPV17 was the most common genetic cause of hepatocerebral MTDPS. The outcome of LT for MTDPS was not favorable, as previously reported, but patients who had MPV17 mutations associated with mild phenotypes such as c.149G>A or c.293C>T and no marked neurologic manifestations before LT, had moderately better outcomes.

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Severe Deoxyguanosine Kinase Deficiency in Austria

Cited by 16 publications

References 25 publications

Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review

Liver Transplantation for Pediatric Hepatocellular Carcinoma: A Systematic Review

Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: Evaluation of outcomes after liver transplantation

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