Kidney Transplantation in Alström Syndrome: Case Report

• Published in: Transplantation proceedings 2017-05, Vol.49 (4), p.733-735
• Main Authors: Poli, L, Arroyo, G, Garofalo, M, Choppin de Janvry, E, Intini, G, Saracino, A, Pretagostini, R, della Pietra, F, Berloco, P.B
• Format: Article
• Language: English
• Subjects: Adult; Alstrom Syndrome - complications; Humans; Kidney Failure, Chronic - etiology; Kidney Failure, Chronic - surgery; Kidney Transplantation; Male; Surgery
• ISSN: 0041-1345; 1873-2623
• DOI: 10.1016/j.transproceed.2017.02.018

Abstract The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death. More than 900 people with Alström syndrome have been reported worldwide. We present a case of a 42-year-old man affected by this syndrome with end-stage renal disease, type 2 diabetes mellitus, and loss of visual function and hearing who received a kidney transplant from a cadaveric donor. Basiliximab and steroid were used as induction therapy. Tacrolimus, mycophenolate mofetil, and steroid were used as maintenance therapy. No complications were reported during the recovery. In selected patients affected by Alström syndrome, renal transplantation can be a successful treatment for chronic kidney disease.