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

共 50 条

[1] Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Giorgia Bucciol
David Cassiman
Tania Roskams
Marleen Renard
Ilse Hoffman
Peter Witters
Rik Schrijvers
Heidi Schaballie
Barbara Bosch
Maria Caterina Putti
Olivier Gheysens
Noel Knops
Marc Gewillig
Djalila Mekahli
Jacques Pirenne
Isabelle Meyts
[J]. Orphanet Journal of Rare Diseases, 13
[2] SHWACHMAN-DIAMOND SYNDROME AND CHRONIC LIVER-DISEASE
LIEBMAN, WM
ROSENTAL, E
HIRSCHBERGER, M
THALER, MM
[J]. CLINICAL PEDIATRICS, 1979, 18 (11) : 695 - &
[3] Orthotopic liver transplantation for a pediatric patient with very severe hepatopulmonary syndrome
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Li, R. -D
Tao, Y. -F
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Wang, Z. -X
[J]. TRANSPLANTATION, 2018, 102 : 346 - 346
[4] Liver transplantation for severe hepatopulmonary syndrome
Castel, H.
Gupta, S.
Faughnan, M. E.
Pomier-Layrargues, G.
[J]. JOURNAL OF HEPATOLOGY, 2008, 48 : S78 - S78
[5] Liver transplantation and severe hepatopulmonary syndrome
Stavrou, GA
Frühauf, NR
Lang, H
Malago, M
Saner, F
Broelsch, CE
[J]. TRANSPLANTATION, 2003, 76 (04) : 746 - 747
[6] Liver Transplantation for Severe Hepatopulmonary Syndrome
Lohlun, J.
Mingmalairak, C.
Lake, J.
Kandaswamy, R.
Payne, W.
Pruett, T.
Chinnakotla, S.
[J]. AMERICAN JOURNAL OF TRANSPLANTATION, 2013, 13 : 73 - 73
[7] Allogeneic: Bone marrow transplantation in a patient with Shwachman-Diamond syndrome
Arseniev, L
Diedrich, H
Link, H
[J]. ANNALS OF HEMATOLOGY, 1996, 72 (02) : 83 - 84
[8] MITOCHONDRIAL DYSFUNCTION AND AUTOIMMUNITY PHENOMENA IN SHWACHMAN-DIAMOND SYNDROME RELATED LIVER DISEASE
De Gregorio, F.
Campanozzi, A.
Correra, A.
Veropalumbo, C.
Gentile, C.
De Micco, I.
Maddaluno, S.
Raia, V.
Rutigliano, I.
Vajro, P.
[J]. DIGESTIVE AND LIVER DISEASE, 2010, 42 : S372 - S372
[9] Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review
Lawal, Odunayo S.
Mathur, Nimisha
Eapi, Srilatha
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[10] Report on patients with Shwachman-Diamond syndrome with severe chronic neutropenia.
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Mori, PG
Bonilla, MA
Dale, D
Cham, B
Kinsey, S
Welte, K
Fier, C
Catalano, P
Cottle, T
Kannourakis, G
Freedman, M
[J]. BLOOD, 1997, 90 (10) : 3544 - 3544

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