Recommendations for the management of tyrosinaemia type 1

被引：141

作者：

de Laet, Corinne ^{[1
]}

Dionisi-Vici, Carlo ^{[2
]}

Leonard, James V. ^{[3
]}

McKiernan, Patrick ^{[4
]}

Mitchell, Grant ^{[5
]}

Monti, Lidia ^{[6
]}

de Baulny, Helene Ogier ^{[7
]}

Pintos-Morell, Guillem ^{[8
]}

Spiekerkoetter, Ute ^{[9
]}

机构：

[1] Univ Childrens Hosp Queen Fabiola, Dept Pediat, Nutr & Metab Unit, Brussels, Belgium

[2] Bambino Gesu Childrens Hosp IRCCS, Dept Pediat Med, Div Metab, Rome, Italy

[3] UCL Inst Child Hlth, London WC1N 1EH, England

[4] Birmingham Childrens Hosp, Liver Unit, Birmingham B4 6NH, W Midlands, England

[5] CHU St Justine, Dept Pediat, Montreal, PQ H3T 1C5, Canada

[6] Bambino Gesu Childrens Hosp IRCCS, Dept Radiol, Unit Hepatobiliary Imaging, Rome, Italy

[7] Hop Robert Debre, Reference Ctr Inherited Metab Dis, F-75019 Paris, France

[8] Badalona Univ Autonoma Barcelona, Univ Hosp Germans Trias & Pujol, Sect Paediat Nephrol Genet & Metab, Dept Paediat, Catalonia, Spain

[9] Univ Childrens Hosp, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2013年 / 8卷

关键词：

Hepatorenal tyrosinaemia; Fumarylacetoacetase; Succinylacetone; Nitisinone; Cirrhosis; Acute live failure; Hepatocellular carcinoma; Low tyrosine diet; LIVER LESION DETECTION; HEREDITARY TYROSINEMIA; NTBC TREATMENT; NITISINONE;

D O I：

10.1186/1750-1172-8-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.

引用

页数：9

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