Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. / Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria Garcia; de Baulny, Hélène Ogier; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho de Juan, José Angel; Couce Pico, Maria Luz; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh Martin.
In: ORPHANET J RARE DIS, Vol. 9, 01.08.2014, p. 107.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
AU - Mayorandan, Sebene
AU - Meyer, Uta
AU - Gokcay, Gülden
AU - Segarra, Nuria Garcia
AU - de Baulny, Hélène Ogier
AU - van Spronsen, Francjan
AU - Zeman, Jiri
AU - de Laet, Corinne
AU - Spiekerkoetter, Ute
AU - Thimm, Eva
AU - Maiorana, Arianna
AU - Dionisi-Vici, Carlo
AU - Moeslinger, Dorothea
AU - Brunner-Krainz, Michaela
AU - Lotz-Havla, Amelie Sophia
AU - Cocho de Juan, José Angel
AU - Couce Pico, Maria Luz
AU - Santer, René
AU - Scholl-Bürgi, Sabine
AU - Mandel, Hanna
AU - Bliksrud, Yngve Thomas
AU - Freisinger, Peter
AU - Aldamiz-Echevarria, Luis Jose
AU - Hochuli, Michel
AU - Gautschi, Matthias
AU - Endig, Jessica
AU - Jordan, Jens
AU - McKiernan, Patrick
AU - Ernst, Stefanie
AU - Morlot, Susanne
AU - Vogel, Arndt
AU - Sander, Johannes
AU - Das, Anibh Martin
PY - 2014/8/1
Y1 - 2014/8/1
N2 - BACKGROUND: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.METHODS: Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications.RESULTS: Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20-40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood).CONCLUSION: Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations.
AB - BACKGROUND: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.METHODS: Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed data and clinical implications.RESULTS: Early treatment by NTBC accompanied by diet is essential to prevent serious complications such as liver failure, hepatocellular carcinoma and renal disease. As patients may remain initially asymptomatic or develop uncharacteristic clinical symptoms in the first months of life newborn mass screening using succinylacetone (SA) as a screening parameter in dried blood is mandatory for early diagnosis. NTBC-treatment has to be combined with natural protein restriction supplemented with essential amino acids. NTBC dosage should be reduced to the minimal dose allowing metabolic control, once daily dosing may be an option in older children and adults in order to increase compliance. Metabolic control is judged by SA (below detection limit) in dried blood or urine, plasma tyrosine (<400 μM) and NTBC-levels in the therapeutic range (20-40 μM). Side effects of NTBC are mild and often transient. Indications for liver transplantation are hepatocellular carcinoma or failure to respond to NTBC. Follow-up procedures should include liver and kidney function tests, tumor markers and imaging, ophthalmological examination, blood count, psychomotor and intelligence testing as well as therapeutic monitoring (SA, tyrosine, NTBC in blood).CONCLUSION: Based on the data from 21 centres treating 168 patients we were able to characterize current practice and clinical experience in Tyr 1. This information could form the basis for clinical practice recommendations, however further prospective data are required to underpin some of the recommendations.
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Cross-Sectional Studies
KW - Cyclohexanones/adverse effects
KW - Enzyme Inhibitors/adverse effects
KW - Female
KW - Follow-Up Studies
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Liver Failure/diagnosis
KW - Liver Transplantation
KW - Male
KW - Neonatal Screening/methods
KW - Nitrobenzoates/adverse effects
KW - Rare Diseases/diagnosis
KW - Renal Insufficiency/diagnosis
KW - Retrospective Studies
KW - Surveys and Questionnaires
KW - Treatment Outcome
KW - Tyrosinemias/diagnosis
KW - Young Adult
U2 - 10.1186/s13023-014-0107-7
DO - 10.1186/s13023-014-0107-7
M3 - SCORING: Journal article
C2 - 25081276
VL - 9
SP - 107
JO - ORPHANET J RARE DIS
JF - ORPHANET J RARE DIS
SN - 1750-1172
ER -