Touraine, J. L., Traeger, J., Bétuel, H., Dubernard, J. M., Revillard, J. P., Dupuy, C., Cochat, Pierre, Jamieson, Neville V., Dubourg, Laurence, Feber, Janusz, and Koch Nogueira, Paulo C.
From the clinical point of view, the conditions associated with recurrence in the transplanted kidney can be classified into 3 groups: (i) inherited inborn errors of metabolism (IEM), (ii) systemic diseases with multiple organ involvement and (iii) glomerulonephritis [1]. Organ transplantation has been introduced during the last 15 years as a possible therapy of IEM. Such a management requires an accurate diagnosis, an early intervention in most cases and a precise knowledge of the biochemical defect. Because of the possible consequences and risks of transplantation, the place of organ replacement is the following issue of conventional therapy of IEM, i.e. treatment at the clinical phenotype level, at the metabolic level and at the dysfunctional protein level [2]. In most cases, transplantation provides the normal protein in its physiological cellular and subcellular locations with respect to its substrates and cosubstrates. Four main conditions can be considered (Tables 1 and 2): (1) transplantation as a replacement of an isolated damaged target organ, such as kidney in nephropathic cystinosis or heart in familial hypercholesterolemia; (2) transplantation as a source for a deficient protein such as displacement marrow transplantation in lysosomal storage diseases or orthotopic liver transplantation in primary hyperoxaluria type 1 (PH1); (3) transplantation as a concommittent protein source and replacement of damaged organ, such as liver transplantation in α-antitrypsin deficiency or tyrosinemia type 1; (4) in cases of combined transplantation, another organ has to be grafted as a replacement of the damaged native one, such as liver + heart in familial hypercholesterolemia or liver + kidney in PH1 [2]. [ABSTRACT FROM AUTHOR]