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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
S. Mayorandan, U. Meyer, G. Gokcay, NG. Segarra, HO. de Baulny, F. van Spronsen, J. Zeman, C. de Laet, U. Spiekerkoetter, E. Thimm, A. Maiorana, C. Dionisi-Vici, D. Moeslinger, M. Brunner-Krainz, AS. Lotz-Havla, JA. Cocho de Juan, ML. Couce Pico,...
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
- MeSH
- cyklohexanony škodlivé účinky terapeutické užití MeSH
- dítě MeSH
- inhibitory enzymů škodlivé účinky terapeutické užití MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- následné studie MeSH
- nitrobenzoany škodlivé účinky terapeutické užití MeSH
- novorozenec MeSH
- novorozenecký screening metody MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- průzkumy a dotazníky MeSH
- renální insuficience diagnóza chirurgie MeSH
- retrospektivní studie MeSH
- selhání jater diagnóza chirurgie MeSH
- transplantace jater MeSH
- tyrosinemie diagnóza terapie MeSH
- výsledek terapie MeSH
- vzácné nemoci diagnóza farmakoterapie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
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.
Bambino Gesù Children's Hospital Piazza Sant'Onofrio 4 00165 Rome Italy
Birmingham Children's Hospital Steelhouse Ln Birmingham B4 6NH United Kingdom
Dr von Haunersches Kinderspital Lindwurmstr 4 D 80337 München Germany
Hannover Medical School Institute for Biometry Carl Neuberg Str 1 D 30625 Hannover Germany
Hospital universitario de Cruces Plaza de Cruces 12 48903 San Vicente de Barakaldo Spain
Istanbul University Faculty of Medicine Fatih Capa Istanbul 34093 Turkey
Klinik für Kinder und Jugendmedizin Steinenbergstr 31 D 72764 Reutlingen Germany
Medizinische Universität Graz Auenbruggerplatz 2 A 8036 Graz Austria
Oslo University Hospital P B 4950 Nydalen 0424 Oslo Norway
Queen Fabiola Children's University Hospital Avenue Crocq 15 B 1020 Brussels Belgium
Screening Labor Hannover Am Steinweg 11A 13B D 30952 Ronnenberg Benthe Germany
Universitätsklinik für Kinder und Jugendheilkunde Währinger Gürtel 18 20 1090 Wien Austria
Universitätsklinik für Kinderheilkunde Inselspital Freiburgstrasse 7 CH 3010 Bern Switzerland
Universitätsklinikum Düsseldorf Moorenstr 5 D 40225 Düsseldorf Germany
Citace poskytuje Crossref.org
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- $a Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice / $c S. Mayorandan, U. Meyer, G. Gokcay, NG. Segarra, HO. de Baulny, F. van Spronsen, J. Zeman, C. de Laet, U. Spiekerkoetter, E. Thimm, A. Maiorana, C. Dionisi-Vici, D. Moeslinger, M. Brunner-Krainz, AS. Lotz-Havla, JA. Cocho de Juan, ML. Couce Pico, R. Santer, S. Scholl-Bürgi, H. Mandel, YT. Bliksrud, P. Freisinger, LJ. Aldamiz-Echevarria, M. Hochuli, M. Gautschi, J. Endig, J. Jordan, P. McKiernan, S. Ernst, S. Morlot, A. Vogel, J. Sander, AM. Das,
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- 700 1_
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- 700 1_
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