Settembre Ottobre 2021

Sindrome di Alström, rarissima causa di insufficienza renale: case report e review della letteratura

Abstract

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.

Keywords: rare diseases, ciliopathies, chronic kidney failure

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Introduzione

La sindrome di Alström, descritta per la prima volta nel 1959, è una malattia multisistemica caratterizzata da distrofia dei coni-bastoncelli, perdita dell’udito, obesità, resistenza all’insulina e iperinsulinemia, diabete mellito tipo 2, cardiomiopatia dilatativa (CMD), disfunzione renale ed epatica progressiva. A livello mondiale sono stati diagnosticati circa 450 casi. I segni clinici, l’età di esordio e la gravità possono variare significativamente tra le diverse famiglie e all’interno della stessa famiglia.

 

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