Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis

被引：10

作者：

Dello Strologo, Luca ^{[1
]}

Spada, Marco ^{[2
,8
]}

Vici, Carlo Dionisi ^{[3
]}

Degli Atti, Marta Ciofi ^{[4
]}

Rheault, Michelle ^{[5
]}

Bjerre, Anna Kristina ^{[6
,22
]}

Boyer, Olivia ^{[7
]}

Calvo, Pier Luigi ^{[8
]}

D'Antiga, Lorenzo ^{[9
]}

Harshman, Lyndsay A. ^{[10
]}

Hoerster, Friederike ^{[11
]}

Koelker, Stefan ^{[11
]}

Jahnukainen, Timo ^{[12
]}

Knops, Noel ^{[13
,14
]}

Krug, Pauline ^{[7
]}

Krupka, Kai ^{[11
]}

Lee, Angela ^{[15
]}

Levtchenko, Elena ^{[13
,14
]}

Marks, Stephen D. ^{[16
]}

Stojanovic, Jelena ^{[16
]}

Martelli, Laura ^{[9
]}

Mazariegos, George ^{[17
]}

Montini, Giovanni ^{[18
]}

Shenoy, Mohan ^{[19
]}

Sidhu, Sangeet ^{[19
]}

Spada, Marco ^{[2
,8
]}

Tangeras, Trine ^{[6
]}

Testa, Sara ^{[18
]}

Vijay, Suresh ^{[20
]}

Wac, Katarzyna ^{[15
]}

Wennberg, Lars ^{[21
]}

Concepcion, Waldo ^{[15
]}

Garbade, Sven F. ^{[11
]}

Toenshoff, Burkhard ^{[11
]}

机构：

[1] Bambino Gesu Childrens Hosp IRCCS, Nephrol, Rome, Italy

[2] Bambino Gesu Childrens Hosp IRCCS, Surg, Rome, Italy

[3] Bambino Gesu Childrens Hosp IRCCS, Metab, Rome, Italy

[4] Bambino Gesu Childrens Hosp IRCCS, Epidemiol, Rome, Italy

[5] Univ Minnesota, Childrens Hosp, Minneapolis, MN 55455 USA

[6] Oslo Univ Hosp, Dept Paediat & Adolescent Med, Oslo, Norway

[7] Univ Paris Cite, Inst Imagine, MARHEA, Hop Necker Enfant Malad, Paris, France

[8] Univ Torino, Dept Pediat, Turin, Italy

[9] Hosp Papa Giovanni XXIII, Paediat Hepatol Gastroenterol & Transplantat, Bergamo, Italy

[10] Univ Iowa, Iowa City, IA 52242 USA

[11] Univ Childrens Hosp, Dept Pediat 1, Heidelberg, Germany

[12] New Childrens Hosp Helsinki, Dept Pediat Nephrol & Transplantat, Helsinki, Finland

[13] Univ Hosp Leuven, Dept Pediat Nephrol & Growth & Regenerat, Leuven, Belgium

[14] Univ Leuven, Leuven, Belgium

[15] Stanford Univ, Div Transplantat, Sch Med, Stanford, CA 94305 USA

[16] UCL, NIHR Great Ormond St Hosp Biomed Res Ctr, Great Ormond St Inst Child Hlth, London, England

[17] UPMC Childrens Hosp Pittsburgh, Pediat Transplant Surg, Pittsburgh, PA USA

[18] Fdn IRCCS Ca Granda, Osped Maggiore Policlin Milan, Pediat Nephrol Dialysis & Transplantat Unit, Milan, Italy

[19] Royal Manchester Childrens Hosp, Pediat Nephrol, Manchester, Lancs, England

[20] Birmingham Childrens Hosp NHS Fdn Trust, Pediat, Birmingham, W Midlands, England

[21] Karolinska Univ Hosp Stockholm, Dept Transplantat Surg, Stockholm, Sweden

[22] Univ Oslo, Inst Clin Med, Oslo, Norway

来源：

MOLECULAR GENETICS AND METABOLISM | 2022年 / 137卷 / 03期

关键词：

Methylmalonic acidemia; Methylmalonic acid; Estimated glomerular filtration rate; Kidney transplantation; Liver transplantation; Combined liver-kidney transplantation; MUT(0);

D O I：

10.1016/j.ymgme.2022.09.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or com-bined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different trans -plant strategies on outcome are unclear.Methods: In this multicenter retrospective observational study, we compared plasma MMA levels and estimated glomerular filtration rate (eGFR) data of 83 patients. Sixty-eight patients (82%) had a mut0-type MMAemia, one patient had a mut--type MMAemia, and seven (7.3%) had an inherited defect in cobalamin metabolism (cblA-or cblB-type MMAemia). Median observation period was 3.7 years (0-15.1 years).Results: Twenty-six (31%) patients underwent KTx, 24 (29%) LTx and 33 (40%) LKTx. Posttransplant, mean plasma MMA concentration significantly decreased in all three cohorts; but at month 12, plasma MMA in KTx (1372 & PLUSMN; 1101 mu mol/L) was 7.8-fold higher than in LTx (176 & PLUSMN; 103 mu mol/L; P < 0.001) and 6.4-fold higher than in LKTx (215 & PLUSMN; 110 mu mol/L; P < 0.001). Comparable data were observed at month 24. At time of transplan-tation, mean eGFR in KTx was 18.1 & PLUSMN; 24.3 mL/min/1.73 m2, in LTx 99.8 & PLUSMN; 29.9 mL/min/1.73 m2, and in LKTx 31.5 & PLUSMN; 21.2 mL/min/1.73 m2. At month 12 posttransplant, mean eGFR in KTx (62.3 & PLUSMN; 30.3 mL/min/1.73 m2) was 33.4% lower than in LTx (93.5 & PLUSMN; 18.3 mL/min/1.73 m2; P = 0.0053) and 25.4% lower than in LKTx (83.5 & PLUSMN; 26.9 mL/min/1.73 m2; P = 0.0403).Conclusions: In patients with isolated MMAemia, LTx and LKTx lead to markedly lower plasma MMA levels during the first 2 years posttransplant than KTx and are associated with a better preservation of kidney function. LTx should therefore be part of the transplant strategy in MMAemia.(c) 2022 Elsevier Inc. All rights reserved.

引用

页码：265 / 272

页数：8

共 50 条

[41] Renal graft outcome after combined liver and kidney transplantation in children: UCLA and UNOS experience
de la Cerda, Francisco
Jimenez, Walter A.
Gjertson, David W.
Venick, Robert
Tsai, Eileen
Ettenger, Robert
PEDIATRIC TRANSPLANTATION, 2010, 14 (04) : 459 - 464
[42] Quantitative analysis of methylmalonic acid in human plasma by LC-MS/ MS after derivatization
Shen, Danhong
Chen, Wei
Liu, Jindi
Liu, Yanhua
Shi, Hongjun
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, 2024, 1248
[43] Renal Function after Combined Liver Kidney Transplantation in Children
Kivela, J. M.
Holmberg, C.
Jalanko, H.
Pakarinen, M.
Lauronen, J.
AMERICAN JOURNAL OF TRANSPLANTATION, 2012, 12 : 345 - 345
[44] RENAL FUNCTION AFTER PEDIATRIC COMBINED LIVER KIDNEY TRANSPLANTATION
KivelA, Jesper M.
Holmberg, Christer
Jalanko, Hannu
Pakarinen, Mikko P.
Lauronen, Jouni
PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1808 - 1808
[45] Kidney Injury after Liver Transplantation (KILT): A Multicenter Consortium To Study Renal Biomarkers after Liver Transplantation
Wagener, Gebhard
Ketharpal, Sachin
Picton, Paul
Steadman, Randolph
Walia, Ann
Niemann, Claus
LIVER TRANSPLANTATION, 2011, 17 (06) : S246 - S247
[46] Long term outcome with isolated liver transplantation and combined liver-kidney transplantation for children with hyperoxaluria
Mor, E
Silbermintz, A
Weismann, I
Bar-Nathan, N
Shaharbani, E
Dinari, G
Shapiro, R
LIVER TRANSPLANTATION, 2003, 9 (06) : C47 - C47
[47] Outcome and quality of life in patients with polycystic liver disease after liver or combined liver-kidney transplantation
Kirchner, Gabriele I.
Rifai, Kinan
Cantz, Tobias
Nashan, Bjoern
Terkamp, Christoph
Becker, Thomas
Strassburg, Christian
Barg-Hock, Hannelore
Wagner, Siegfried
Lueck, Rainer
Klempnauer, Juergen
Manns, Michael P.
LIVER TRANSPLANTATION, 2006, 12 (08) : 1268 - 1277
[48] CASE STUDY OF METHYLMALONIC ACIDEMIA PRESENTING WITH ACUTE ENCEPHALOPATHY ASSOCIATED WITH BASAL NUCLEI LESIONS 20 MONTHS AFTER LIVER TRANSPLANTATION FROM A LIVING DONOR
Nakajima, Y.
Ito, T.
Ichiki, S.
Maeda, Y.
Kobayashi, S.
Ando, N.
Sugiyama, N.
Hashimoto, T.
Togari, H.
JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S54 - S54
[49] Analysis of Long-Term Outcome of Combined Liver and Kidney Transplantation for 26 Patients
Zhuang, Li
Tu, Zhenhua
Zhang, Min
Xu, Xiao
Zheng, Shusen
TRANSPLANTATION, 2015, 99 : 239 - 239
[50] PLASMA HOMOCYSTEINE AND METHYLMALONIC ACID CORRELATE TO RENAL FUNCTION AND NOT TO PLASMA COBALAMIN (VITAMIN B12) IN MULTIPLE MYELOMA PATIENTS
Hermansen, N. E. U.
Malm, U.
Gimsing, P.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 : 270 - 271

← 1 2 3 4 5 →