Postpartum aHUS Secondary to a Genetic Abnormality in Factor H Acquired Through Liver Transplantation

被引：17

作者：

Brown, J. H. ^{[4
]}

Tellez, J. ^{[5
]}

Wilson, V. ^{[5
]}

Mackie, I. J. ^{[6
]}

Scully, M. ^{[6
]}

Tredger, M. M. ^{[7
]}

Moore, I. ^{[8
]}

McDougall, N. I. ^{[9
]}

Strain, L. ^{[5
]}

Marchbank, K. J. ^{[1
]}

Sheerin, N. S. ^{[1
]}

O'Grady, J. ^{[7
]}

Harris, C. L. ^{[3
]}

Goodship, T. H. J. ^{[1
,2
]}

机构：

[1] Newcastle Univ, Inst Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[3] Cardiff Univ, Sch Med, Dept Infect Immun & Biochem, Cardiff, S Glam, Wales

[4] Belfast Hlth & Social Care Trust, Belfast City Hosp, Renal Unit, Belfast, Antrim, North Ireland

[5] Newcastle Tyne Hosp NHS Fdn Trust, No Mol Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England

[6] UCL, Dept Haematol, Haemostasis Res Unit, London, England

[7] Kings Coll Hosp NHS Trust, Inst Liver Studies, London, England

[8] City Hosp Sunderland NHS Fdn Trust, Renal Unit, Sunderland, Tyne & Wear, England

[9] Royal Victoria Hosp, Liver Unit, Belfast BT12 6BA, Antrim, North Ireland

来源：

AMERICAN JOURNAL OF TRANSPLANTATION | 2012年 / 12卷 / 06期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

Complement; factor H; hemolytic uremic syndrome; genetics; liver transplantation; HEMOLYTIC-UREMIC SYNDROME; THROMBOTIC MICROANGIOPATHY; EXPERIENCE; DISORDER; MUTATION; ALLELES;

D O I：

10.1111/j.1600-6143.2012.03991.x

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

We report here a young female who underwent a successful deceased donor liver transplant for hepatic vein thrombosis. Five years after transplantation she developed postpartum atypical hemolytic uremic syndrome (aHUS). She did not recover renal function. Mutation screening of complement genes in her DNA did not show any abnormality. Mutation screening of DNA available from the donor showed a nonsense CFH mutation leading to factor H deficiency. Genotyping of the patient showed that she was homozygous for an aHUS CD46 at-risk haplotype. In this individual, the development of aHUS has been facilitated by the combination of a trigger (pregnancy), an acquired rare genetic variant (CFH mutation) and a common susceptibility factor (CD46 haplotype).

引用

页码：1632 / 1636

页数：5

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