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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10283192" target="_blank" >RIV/00216208:11110/14:10283192 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10283192

Result on the web

<a href="http://dx.doi.org/10.1186/s13023-014-0107-7" target="_blank" >http://dx.doi.org/10.1186/s13023-014-0107-7</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-014-0107-7" target="_blank" >10.1186/s13023-014-0107-7</a>

Result language

angličtina

Original language name

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

Original language description

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 combine

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

Aug

Country of publishing house

GB - UNITED KINGDOM

Number of pages

16

Pages from-to

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UT code for WoS article

000341033000001

EID of the result in the Scopus database

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