Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

被引：46

作者：

Mc Guire, Peter J. ^{[1
,2
]}

Lim-Melia, Elizabeth ^{[1
,2
]}

Diaz, George A. ^{[1
,2
]}

Raymond, Kimiyo ^{[1
,2
]}

Larkin, Alexandra ^{[1
,2
]}

Wasserstein, Melissa P. ^{[1
,2
]}

Sansaricq, Claude ^{[1
,2
]}

机构：

[1] Mt Sinai Med Ctr, Dept Genet & Genom Sci, Div Med Genet, New York, NY 10021 USA

[2] Mt Sinai Med Ctr, Dept Pediat, New York, NY 10029 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 93卷 / 01期

关键词：

methylmalonic aciduria; liver transplantation; kidney transplantation; immunosuppression; neurologic complications; metabolic stroke;

D O I：

10.1016/j.ymgme.2007.08.119

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Over 27 cases of liver transplant.. kidney transplant and combined liver-kidney transplant have been reported for the treatment of methylmalonic aciduria. We describe a case of a 5-year-old boy who underwent combined liver-kidney transplant (CLKT) for phenotypic mut0 disease. His history was notable for more than 30 hospitalizations for severe acidosis, metabolic strokes, liver disease, pancreatic disease, chronic renal insufficiency with interstitial nephritis, and decreased quality of life. Post-CLKT, there was a marked reduction in serum (80%) and urine MMA levels (90%) as well as a cessation of metabolic decompensations. Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylinalonic aciduria are discussed. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：22 / 29

页数：8

共 37 条

[1]

Andersson HC, 1999, GENET MED, V1, P146

[2] BIOCHEMICAL-DIAGNOSIS AND OUTCOME OF 2 YEARS TREATMENT IN A PATIENT WITH COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA [J].