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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10283192

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2014

Kód důvěrnosti údajů

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

Název periodika

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Svazek periodika

9

Číslo periodika v rámci svazku

Aug

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

16

Strana od-do

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Kód UT WoS článku

000341033000001

EID výsledku v databázi Scopus

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