title: [Kidney Transplantation and inborn errors of metabolism].
abstract: Inherited kidney diseases constitute at least 150 different disorders and they have an overall prevalence of about 6080 cases per 100,000 in Europe and in USA. At least 10% of adults and nearly all children who progress to renal-replacement therapy have an inherited kidney disease, representing the fifth most common cause of end-stage renal disease after diabetes, hypertension, glomerulonephritis, and pyelonephritis. These conditions include both structural and functional disorders, among which are counted diseases resulting from inborn errors of metabolism (IEM). Some inborn errors of metabolism primarily affect kidney and because of progress in renal replacement therapy, patients with inherited kidney disorders rarely die when their disease progresses and can live for many years. However, these patients often have compromised health with a poor quality of life. Renal transplantation offers a viable treatment option for those inborn errors of metabolism characterized by primary renal damage caused by dysfunction of a mutated protein, as in cystinuria. In this case, the indication to renal transplantation makes it possible to overcome the specific enzyme defect. However this option remains valid even when the genetic defect is expressed systemically and renal involvement is just one of the clinical manifestations of the disease, as in Anderson-Fabry disease, cystinosis, hereditary amyloidosis and primary hyperoxaluria. In these conditions, renal transplantation is combined with the liver (primary hyperoxaluria) or cardiac transplant (familial amyloidosis) improving the quality and life expectancy of patients.
authors.forename: Irene
authors.initials: I
authors.lastname: Capelli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Battaglino
authors.forename: Olga
authors.initials: O
authors.lastname: Baraldi
authors.forename: Matteo
authors.initials: M
authors.lastname: Ravaioli
authors.forename: Vania
authors.initials: V
authors.lastname: Cuna
authors.forename: Ilaria
authors.initials: I
authors.lastname: Moretti
authors.forename: Andrea
authors.initials: A
authors.lastname: Angeletti
authors.forename: Francesca
authors.initials: F
authors.lastname: Mencarelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Pasini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
authors.forename: Antonio Daniele
authors.initials: AD
authors.lastname: Pinna
authors.forename: Gaetano
authors.initials: G
authors.lastname: La Manna
mesh_terms: D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000601:surgery*