MetaNews Julio 2021

MetaNews Julio 2021

Nota del editor

El trasplante de órganos (TO)- hígado y/o riñón – se ha perfilado en las últimas décadas como una alternativa terapéutica en varios errores innatos de metabolismo (EIM). Se ha utilizado para corrección enzimática completa (defectos de ciclo de la urea) o parcial (acidemia propiónica/metilmalónica, enfermedad de la orina con olor a jarabe de arce).

En los últimos años, varios factores, como el perfeccionamiento de las técnicas y el aumento de la supervivencia, han hecho que aumente el interés para el TO en EIM. Sin embargo, hay varias controversias, sobre todo en el caso de las acidemias orgánicas, en las que el TO no corrige totalmente el defecto enzimático y se han visto casos de aparición de complicaciones crónicas típicas de la propia enfermedad.

Desde la SEEIM os ofrecemos una selección de los artículos publicados en los últimos meses sobre el TO en EIM, que arrojan nuevas perspectivas sobre la pronóstico de estos pacientes.



Publicaciones Destacadas


Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan
Jun Kido, Shirou Matsumoto, Johannes Häberle, Yukihiro Inomata, Mureo Kasahara, Seisuke Sakamoto, Reiko Horikawa, Akihiro Tanemura, Hideaki Okajima, Tatsuya Suzuki, Kimitoshi Nakamura
J Inherit Metab Dis. 2021 Jul 7. doi: 10.1002/jimd.12415. Online ahead of print.

Abstract
Urea cycle disorders (UCDs) are inherited metabolic diseases causing hyperammonemia by defects in urea cycle enzymes or transporters. Liver transplantation (LT) currently is the only curative treatment option until novel therapies become available. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to investigate the effect of LT in patients with UCDs in Japan. A total of 231 patients with UCDs were enrolled in this study…

Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience
Anaïs Brassier, Pauline Krug, Florence Lacaille, Clément Pontoizeau, Saoussen Krid, Samira Sissaoui, Aude Servais, Jean-Baptiste Arnoux, Christophe Legendre, Marina Charbit …
J Inherit Metab Dis. 2020 Mar;43(2):234-243. doi: 10.1002/jimd.12174. Epub 2020 Feb 11.

Abstract
Organ transplantation is discussed in methylmalonic aciduria (MMA) for renal failure, and poor quality of life and neurological outcome. We retrospectively evaluated 23 French MMA patients after kidney (KT), liver-kidney (LKT), and liver transplantation (LT). Two patients died, one after LKT, one of hepatoblastoma after KT…

Metabolic Control and «Ideal» Outcomes in Liver Transplantation for Maple Syrup Urine Disease
Caroline B. Ewing, Kyle A. Soltys, MD, Kevin A. Strauss, MD, Ajai Khanna, MD, PhD, MBA, FACS, FRCS, George V. Mazariegos, MD, James E. Squires, MD, MS.
J Pediatr. 2021 Jun 18;S0022-3476(21)00558-8. doi: 10.1016/j.jpeds.2021.06.028.Online ahead of print.

Abstract
Objectives: To assess outcomes following liver transplantation for maple syrup urine disease by determining attainment and sustainability of metabolic control and apply an «ideal» outcome composite in long-term survivors. Study design: A single center, retrospective review collected clinical data including branched-chain amino acid (leucine, isoleucine, and valine) levels following liver transplant and determined achievement of an ideal long-term outcome profile of a first allograft stable on immunosuppression monotherapy, normal growth, and absence of common transplant-related sequelae…

Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data
Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Koning, Carlo Dionisi-Vici, Monique Williams, additional individual contributors of MetabERN
J Inherit Metab Dis. 2021 May;44(3):593-605. doi: 10.1002/jimd.12318. Epub 2020 Oct 29

Abstract
Background: This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid-related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an initiative of the E-IMD and the AOA subnetwork of MetabERN.