Successfull kidney transplantation in a case of Alström Syndrome

M.G. Porcellini, B. Gianoglio, L. Peruzzi, R. Coppo

Nephrology, Dialysis and Transplation Dept. Regina Margherita Children Hospital

Alstrom Syndrome is an autosomal recessive genetic disorders characterized by several signs and symptoms including infantile onset of dilated cardiomiopathy, blindness, hearing impairment and obesity. Diabetes, renal and hepatic dysfunction occur later in life. We report a case of a 16-years-old girl affected by Alstrom Syndrome clinically diagnosed by our endocrinologist at age 9. Diagnosis was due to growth retardation with growth hormone deficiency, associated to obesity, severe dyslipidemia, arterial hypertension and severe visual impairment characterized by bilateral nistagmus due to optic nerve atrophy and slight spread of retinal pigment. Glucose tolerance and hear function were normal. Renal function was at the lower limit of the normal range (serum Creatinine = 0.8 mg/dl and creatininine clearance = 65 ml/min/1.73 sqm) without urinary abnormalities. Abdominal ultrasound showed a volume increase of both kidneys, with hyperechogenic parenchima, reduced cortical-medullary differentiation and increased liver echogenicity. Skeleton abnormalities as well as brain lesion detectable by magnetic resonance were not evidenced. Chromosome map was 46,XX. At age 10 the girl showed an increased serum creatinine value (sCr 1.6 mg/dl) and was referred to our Department of Nephrology, Dialysis and Transplantation. Renal biopsy was not performed. Rapid evolution to end stage renal failure was observed and we begun substitutive treatment (hemodialysis for family choice) one year later. Cadaveric kidney transplantation was succesfully performed at age 13 without any clinical problem apart from a lymphocele surgically corrected after one month and a temporary slight increase of all liver enzymes attributed to pravastatin hepatic toxicity. Actually the graft is well functioning treated by a triple anti-rejection therapy with cyclosporin, steroids and mycophenolate. Liver enzymes and lipids are normal under torvastatin therapy, but she has persistant hyperbilirubinemia attributed to chronic epatopahy as part of the syndrome. We report our case because is the first in which a kidney transplantation was performed.