Indications and outcome of liver transplantation in tyrosinaemia type 1

Mohan, Narain; McKiernan, Patrick; Preece, Mary Anne; Green, A; Buckels, J. A. C.; Mayer, A. D.; Kelly, Déirdre

doi:10.1007/pl00014321

Cited by 107 publications

(67 citation statements)

References 3 publications

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“…14 Early liver transplant has been recommended as the curative treatment of HT-1 before 1 year of age in many previous reports. 13,15,16 Contrary to these studies, Luks and associates concluded that the incidence of HCC is less than 10%, and close monitoring of appearance or increase in size of the hepatic nodule is a guide to transplant, and early transplant is not supported. 17 Nineteen of our patients (52.8%) were older than 2 years.…”

Section: Discussionmentioning

confidence: 97%

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Bahador

Dehghani²,

Geramizadeh³

et al. 2015

Exp Clin Transplant

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Objectives: This study sought to determine the prevalence of hepatocellular carcinoma and other premalignant lesions in children with hereditary tyrosinemia type 1 who had undergone an orthotopic liver transplant at the Shiraz Transplant Center, in Shiraz, Iran. Materials and Methods: Between September 2006, and June 2011, thirty-six patients with hereditary tyrosinemia type 1 received a liver transplant from a deceased (whole or split) or a living-related donor. Clinical records and pathologic specimens, before and after surgery, for each case were reviewed. In addition, ultrasound, abdominal computed tomographic imaging scan findings, and levels of alpha-fetoprotein were recorded. Results: Twenty-two patients with hepatic nodules larger than 10 mm underwent a Tru-Cut needle biopsy before their liver transplant. In 2 patients, a diagnosis of hepatocellular carcinoma was made by pathologic examination; in the other 20, cirrhosis was confirmed with no evidence of malignancy. After pathologic examination of the explanted livers, the largest nodules in the 36 patients were 35 mm. Five cases had at least 1 nodule of hepatocellular carcinoma. Three of the other patients had small cell dysplasia in some of nodules. All 5 cases with hepatocellular carcinoma were patients older than 2 years of age (19 patients were older than 2 years of age). All patients with hepatocellular carcinoma received pretransplant nitisinone treatment. All patients with hepatocellular carcinoma after their liver transplant are alive at the time of this writing. Conclusions: The prevalence of cell dysplasia and hepatocellular carcinoma in children with hereditary tyrosinemia type 1 in our study is not as high as that reported previously, so it appears that patients older than 2 years of age require a liver transplant.

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Section: Discussionmentioning

confidence: 97%

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Bahador

Dehghani²,

Geramizadeh³

et al. 2015

Exp Clin Transplant

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“…Nitisinone blocks the tyrosine catabolic pathway such that increases the blood concentration of tyrosine, blood tyrosine concentration greater than 600 mol/l confers risk of precipitation of tyrosine crystals in the cornea as bilateral, linear, branching subepithelial corneal opacities causing photophobia and itchy, sensitive eyes. [11,13].Failure to normalize of AFP or a secondary rise should be regarded with suspicion, imaging should be done without delay [25,27,39,42]. 5.4.…”

Section: Ophthalmic Examinationmentioning

confidence: 99%

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

Alobaidy¹

2017

IOSRJPBS

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“…9 In most cases, liver function and coagulopathy improve within 1 week of treatment. 7,8,56,57 In those who are unresponsive, the nitisinone dosage should be increased and in those who are unresponsive even after higher doses, LT is indicated. 9,45,57 No new acute hepatic exacerbation has been reported after nitisinone initiation.…”

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confidence: 99%

“…7,8,56,57 In those who are unresponsive, the nitisinone dosage should be increased and in those who are unresponsive even after higher doses, LT is indicated. 9,45,57 No new acute hepatic exacerbation has been reported after nitisinone initiation. 23 Children with chronic tyrosinemia and those with acute/ subacute tyrosinemia treated with nitisinone have generally established chronic liver disease and nodular cirrhosis.…”

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confidence: 99%

“…58 Nitisinone also improves growth, liver function, and portal hypertension in HT1 patients with chronic liver disease. 57 The effect of nitisinone on the hepatic findings depends on the drug use on a regular basis. FAH -/-mouse model studies revealed that nitisinone treatment prevented lethal liver dysfunction when started in the neonatal period but discontinuation of this treatment led to disruption of hepatic architecture depending on the length of time.…”

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confidence: 99%

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Nitisinone: a review

Aktuglu-Zeybek¹,

Zübarioğlu²

2017

ODRR

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Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]cyclohexane-1,3-dione), an effective triketone herbicide, is a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the tyrosine catabolic pathway. Since 1992, the drug has become an effective pharmacological treatment for hereditary tyrosinemia type 1 (HT1). Nitisinone can prevent the development of liver disease, reverse and prevent the renal tubular dysfunction, severe neurological crisis and cardiomyopathy and significantly reduce the risk of developing hepatocellular carcinoma in HT1 patients. Its mode of action, with few side effects reported, make the drug a potential candidate for the treatment of other disorders of tyrosine metabolism, including alkaptonuria, with successful reduction in homogentisic acid production to prevent long-term complications. Nitisinone could also be a promising agent in the treatment of tumors with active tyrosine metabolic pathways. In this review, we discuss the effects of nitisinone for various tyrosine pathway disorders.

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Indications and outcome of liver transplantation in tyrosinaemia type 1

Abstract: Liver transplantation is an effective treatment for TT1 with good quality of life. The current indications of OLT in TT1 are non-response to NTBC, risk of malignancy and poor quality of life related to dietary restriction and frequency of blood sampling.

Cited by 107 publications

References 3 publications

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A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

Nitisinone: a review

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