title: The Alström syndrome: is it a rare or unknown disease?
abstract: The Alström syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing impairment, non-insulin-dependent diabetes mellitus and kidney and heart failure. Mental retardation is absent and the extremities are normal. The Alström syndrome gene located on chromosome 2, has been recently identified. The Alström syndrome involves multiple organ systems with a complex interaction between pathways. Phenotypic expression varies considerably, even within sibships. Manifestations observed in some, but not all, Alström syndrome patients include acanthosis nigricans, alopecia, short stature, scoliosis, kyphosis, hyperostosis frontalis interna, muscle dystonia, advanced bone age and subcapsular cataract. Other metabolic and endocrinological abnormalities have been described: hypothyroidism, hypogonadism, diabetes insipidus, growth hormone deficiency, hyperuricemia and hyperlipidemia. In the final stages of the disease, affected individuals exhibit progressive chronic nephropathy with eventual kidney failure. The most frequent causes of death include hepatic dysfunction and congestive heart failure secondary to dilated cardiomyopathy. We have summarized our personal clinical data and the information from the scientific literature on the topic in order to provide an up-to-date review on the Alström syndrome.
authors.affiliation: Dipartimento di Scienze Mediche e Chirurgiche, Università degli Studi di Padova. pietromaffei@libero.it
authors.forename: Pietro
authors.initials: P
authors.lastname: Maffei
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Munno
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Cesare
authors.initials: C
authors.lastname: Scandellari
authors.forename: Nicola
authors.initials: N
authors.lastname: Sicolo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics* / Q000503:physiopathology*; D002889:Chromosomes, Human, Pair 2; D003937:Diagnosis, Differential; D004700:Endocrine System Diseases / Q000235:genetics / Q000503:physiopathology; D005808:Genes, Recessive; D006309:Hearing; D006333:Heart Failure / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D009140:Musculoskeletal Diseases / Q000235:genetics / Q000503:physiopathology; D012140:Respiratory Tract Diseases / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome; D014570:Urologic Diseases / Q000235:genetics / Q000503:physiopathology; D014785:Vision, Ocular