Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Autor: Peter Freisinger, Corinne De Laet, Jiri Zeman, Nuria Garcia Segarra, Sebene Mayorandan, Dorothea Moeslinger, Johannes Sander, J. F. Jordan, Ute Spiekerkoetter, Matthias Gautschi, José Angel Cocho de Juan, Arndt Vogel, Francjan J. van Spronsen, Sabine Scholl-Bürgi, María Luz Couce Pico, U. Meyer, Jessica Endig, Arianna Maiorana, Hélène Ogier de Baulny, Gülden Gökçay, René Santer, Susanne Morlot, Eva Thimm, Michaela Brunner-Krainz, Yngve Thomas Bliksrud, Patrick J. McKiernan, Luis Aldámiz-Echevarría, Carlo Dionisi-Vici, Michel Hochuli, Amelie S. Lotz-Havla, Stefanie Ernst, Hanna Mandel, Anibh M. Das
Přispěvatelé: Center for Liver, Digestive and Metabolic Diseases (CLDM)
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Male
Newborn screening
NTBC TREATMENT
Génétique clinique
Nitisinone
Hepatocellular carcinoma
medicine.medical_treatment
Succinylacetone
Liver transplantation
Pharmacologie
Surveys and Questionnaires
Genetics(clinical)
Pharmacology (medical)
Renal Insufficiency
Enzyme Inhibitors
Child
Genetics (clinical)
Medicine(all)
Tyrosinemias
Psychomotor impairment
NITISINONE NTBC
General Medicine
Sciences bio-médicales et agricoles
LIVER-TRANSPLANTATION
DRIED-BLOOD SPOTS
Treatment Outcome
Child
Preschool
Female
medicine.symptom
medicine.drug
medicine.medical_specialty
Adolescent
610 Medicine & health
Asymptomatic
Tyrosinemia
Young Adult
Neonatal Screening
Rare Diseases
Internal medicine
HEREDITARY TYROSINEMIA
medicine
Humans
TYPE-1 PATIENTS
TANDEM MASS-SPECTROMETRY
Mass screening
Retrospective Studies
Cyclohexanones
business.industry
Research
NORMAL INFANTS
NTBC
Infant
Newborn
Infant
Retrospective cohort study
Therapeutic monitoring
medicine.disease
Diet
Cross-Sectional Studies
Nitrobenzoates
Tyrosine
business
FOLLOW-UP
Liver Failure
Follow-Up Studies
Zdroj: Orphanet journal of rare diseases, 9 (1
Orphanet journal of rare diseases, 9:107. BMC
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; 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; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Orphanet Journal of Rare Diseases
ISSN: 1750-1172
DOI: 10.1186/s13023-014-0107-7
Popis: 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 (
SCOPUS: ar.j
info:eu-repo/semantics/published
Databáze: OpenAIRE
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