Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

被引：6

作者：

Bucciol, Giorgia ^{[1
,6
]}

Cassiman, David ^{[3
,4
]}

Roskams, Tania ^{[4
,5
]}

Renard, Marleen ^{[6
]}

Hoffman, Ilse ^{[6
]}

Witters, Peter ^{[6
]}

Schrijvers, Rik ^{[4
,7
]}

Schaballie, Heidi ^{[6
]}

Bosch, Barbara ^{[6
,8
]}

Putti, Maria Caterina ^{[2
]}

Gheysens, Olivier ^{[4
,9
]}

Knops, Noel ^{[6
]}

Gewillig, Marc ^{[10
,11
]}

Mekahli, Djalila ^{[12
,13
]}

Pirenne, Jacques ^{[4
,14
]}

Meyts, Isabelle ^{[1
,6
]}

机构：

[1] Katholieke Univ Leuven, Dept Microbiol & Immunol, Lab Inborn Errors Immun, Herestr 49, B-3000 Leuven, Belgium

[2] Univ Padua, Dept Childs & Womans Hlth, Pediat Oncol & Hematol, Padua, Italy

[3] Univ Hosp Leuven, Gastroenterol & Hepatol, Leuven, Belgium

[4] Katholieke Univ Leuven, Leuven, Belgium

[5] Univ Hosp Leuven, Anat Pathol, Leuven, Belgium

[6] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

[7] Univ Hosp Leuven, Dept Microbiol & Immunol, Lab Clin Immunol, Leuven, Belgium

[8] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

[9] Univ Hosp Leuven, Nucl Med, Leuven, Belgium

[10] Katholieke Univ Leuven, Dept Cardiovasc Sci, Leuven, Belgium

[11] Univ Hosp Leuven, Dept Pediat Cardiol, Leuven, Belgium

[12] Katholieke Univ Leuven, Dept Dev & Regenerat, Leuven, Belgium

[13] Univ Hosp Leuven, Dept Pediat Nephrol, Leuven, Belgium

[14] Univ Hosp Leuven, Lab Abdominal Transplantat, Abdominal Transplantat Surg, Leuven, Belgium

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2018年 / 13卷

基金：

比利时弗兰德研究基金会;

关键词：

Vitamin A; Liver transplantation; Shwachman-Diamond syndrome; Hepatopulmonary syndrome; TOXICITY; GUIDELINES; DIAGNOSIS;

D O I：

10.1186/s13023-018-0818-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver transplantation with complete resolution of the pulmonary shunting.

引用

页数：6

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