Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency

Chartier, Marie-Eve; Hart, Lara; Paganelli, Massimiliano; Ahmed, Najma; Bilodeau, Marc; Alvarez, Fernando

doi:10.1542/peds.2016-3896

Cited by 14 publications

(23 citation statements)

References 25 publications

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“…Phototherapy is effective in preventing exchange transfusions in many infants. Rarely, newborns can present with evolving hepatic disease and evidence of a direct hyperbilirubinaemia (Raphael et al , ; Olivier et al , ; Chartier et al , ). One hypothesis of the pathophysiology for this uncommon complication is that certain patients are susceptible to PK‐liver (PK‐L) enzyme deficiency due to both severe deficiencies in PK‐L and the PK‐M2 isoenzyme.…”

Section: Supportive Treatmentsmentioning

confidence: 99%

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How we manage patients with pyruvate kinase deficiency

2019

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Summary Novel therapies in development have brought a new focus on pyruvate kinase deficiency (PKD), the most common congenital haemolytic anaemia due to a glycolytic enzyme deficiency. With an improved recognition of its clinical presentation and understanding of the diagnostic pathway, more patients are likely to be identified with this anaemia. Complications, including gallstones and non‐transfusion‐related iron overload, require monitoring for early diagnosis and management. Current management remains supportive with red cell transfusions, chelation and splenectomy. Decisions to transfuse and/or splenectomise must be individualised. Haematopoietic stem cell transplant has been pursued in a small number of patients with mixed outcomes. Novel treatment approaches, which range from a small molecule pyruvate kinase activator to gene therapy, may transform the way in which PKD is managed in the future. In this review, we discuss the pathophysiology of PKD and present our approaches to diagnosis, monitoring and management of patients with this anaemia.

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Section: Supportive Treatmentsmentioning

confidence: 99%

“…In published cases, there is a high rate of morbidity and mortality. The only reported effective strategy to date is early identification of the aetiology of liver disease followed by liver transplant (Chartier et al , ).…”

Section: Supportive Treatmentsmentioning

confidence: 99%

How we manage patients with pyruvate kinase deficiency

2019

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“…Transaldolase deficiency, Zellweger spectrum disorders, which are peroxisomal defects, and pyruvate kinase deficiency are the other disorders where LT has been offered for ESLD[ 50 - 52 ]. The overall incidence of Zellweger spectrum disorders is estimated to be around 1/50000.…”

Section: Group Amentioning

confidence: 99%

Pediatric metabolic liver diseases: Evolving role of liver transplantation

Menon¹,

Vij²,

Sachan³

et al. 2021

WJT

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Metabolic liver diseases (MLD) are the second most common indication for liver transplantation (LT) in children. This is based on the fact that the majority of enzymes involved in various metabolic pathways are present within the liver and LT can cure or at least control the disease manifestation. LT is also performed in metabolic disorders for end-stage liver disease, its sequelae including hepatocellular cancer. It is also performed for preventing metabolic crisis’, arresting progression of neurological dysfunction with a potential to reverse symptoms in some cases and for preventing damage to end organs like kidneys as in the case of primary hyperoxalosis and methyl malonic acidemia. Pathological findings in explant liver with patients with metabolic disease include unremarkable liver to steatosis, cholestasis, inflammation, variable amount of fibrosis, and cirrhosis. The outcome of LT in metabolic disorders is excellent except for patients with mitochondrial disorders where significant extrahepatic involvement leads to poor outcomes and hence considered a contraindication for LT. A major advantage of LT is that in the post-operative period most patients can discontinue the special formula which they were having prior to the transplant and this increases their well-being and improves growth parameters. Auxiliary partial orthotopic LT has been described for patients with noncirrhotic MLD where a segmental graft is implanted in an orthotopic position after partial resection of the native liver. The retained native liver can be the potential target for future gene therapy when it becomes a clinical reality.

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“…The first case report in this supplement of the use of liver transplantation for pyruvate kinase deficiency is 1 such example. 9 In the next 7 case reports, novel therapies for difficult to manage conditions are suggested.…”

Section: Suggest New Therapymentioning

confidence: 99%

The Case for the Case Report

Malatack

2018

Pediatrics

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Case reports at one time could be found in many if not most medical journals. I found that 40 years ago, the top 10 pediatric journals all published case reports (many with designated case report sections), and 30% of the articles published in the 10 journals collectively were case reports. Twenty years ago, these same journals had reduced their case report publications, averaging only 15% of their published articles, with many having dropped a case report section altogether. In 2016, case reports only accounted for 4% of articles published in this same group of journals, with Pediatrics at 11% being the most committed to this format of medical publication. Pediatrics also is the only one of these publications with a designated section for case reports. Pediatrics' recent decision to reduce the number of published case reports from a maximum of 8 an issue to 3 an issue is the latest in this long decline. It appears that 2 forces have had a role in the decline of the case report as a genre of medical publications. The 2 forces include the impact factor, created in the 1990s, and the inability to use statistical methodology to assess the data at hand. The impact factor is a measure of the frequency with which the average article in a journal has been cited from a particular year. It is used to measure the importance or rank of a journal by calculating the times its articles are cited. A 2-year period is used and involves dividing the number of times articles that were cited in that 2-year period after publication by the number of articles that are potentially citable. Case reports are handled, for this purpose, as are original articles. Case Reports, for reasons outlined below, are invariably not going to be cited as often as original articles by the 2-year postpublication period that defines the impact factor. The other force that has led to the decline of case reports is the inability to apply statistical analysis to strengthen the scientific merit of the report. In the words of one of my coeditors, "You can't tell anything from a single case." The error in this reasoning is the supposition that a case report and an original article have anything in common. They don't.

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Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency

Cited by 14 publications

References 25 publications

How we manage patients with pyruvate kinase deficiency

How we manage patients with pyruvate kinase deficiency

Pediatric metabolic liver diseases: Evolving role of liver transplantation

The Case for the Case Report

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