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Transplant Proc. 2017 May;49(4):733-735. doi: 10.1016/j.transproceed.2017.02.018.

Kidney Transplantation in Alström Syndrome: Case Report.

Author information

1
UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy. Electronic address: luca.poli@uniroma1.it.
2
UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy.
3
UOC Nefrologia, Coordinamento Regionale Trapianti Basilicata, Ospedale Madonna delle Grazie, Matera, Italy.

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.

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