Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia · 2021
[Alström syndrome, a rare cause of renal failure: case report and review of the literature].
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Faggian Guido, Cesaro Antonio, Faggian Roberto, Del Piano Carlo, Vitagliano Arcangelo, Del Piano Domenico, Tibullo Loredana, Faggian Angela
Аннотация
We describe the case of a 26-year-old male patient with a previous diagnosis of Alström Syndrome who presented drowsiness, dyspnea, tremors, and a dull abdominal pain, without signs of peritoneal irritation. The patient also presented sensorineural hearing loss, decreased vision, due to chorioretinal dystrophy, difficulty walking with back-lumbar double curve scoliosis, impaired glycemic homeostasis, and a significant deterioration of renal function. Alström syndrome is a multisystem disease characterized by rod-cone dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, and progressive renal and hepatic dysfunction. Around 450 cases have been identified worldwide. Clinical signs, age of onset and severity can vary significantly between different families and within the same family. Careful nephrological follow-up is necessary in patients with syndromic ciliopathies, since long-term kidney problems can have an impact on other diseases, eg. cardiovascular disease.