Three new cases of Alström syndrome

Abstract

Blindness, hearing loss, complications of diabetes, and renal failure confirm the gravity of this syndrome. The prognosis regarding survival is correlated with the severity of renal failure.

Insulin Receptor Substrate 2 Is Essential for Maturation and Survival of Photoreceptor Cells

“…Patients with Alstrom syndrome develop neurosensory hearing loss and progressive retinal degeneration accompanied by insulin resistance that progresses to type 2 diabetes (Benso et al, 2002;Iannello et al, 2004). Bardet-Biedl syndrome is characterized by many systemic disorders, including retinal dystrophy or pigmentary retinopathy, which is accompanied by abdominal obesity and type 2 diabetes (Iannello et al, 2002).…”

Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome

“…9,13,14 The disorder is characterized by progressive pigmentary retinal dystrophy, sensorineural hearing loss, childhood obesity, type 2 diabetes mellitus, and dilated cardiomyopathy. [9][10][11][12][13][14] Some of the pathologic features observed in Alströ m syndrome, such as the retinal degeneration, sensorineural hearing loss, and renal dysfunction, can be directly related to the role of the ALMS1 protein in ciliary function, as rhodopsin transport through the connecting cilium in photoreceptor cells is impaired, 28 stereo cilia in the inner ear are disorganized (G. B. Collin, MA, unpublished data, 2007), and primary cilia in the kidney tubules degenerate.…”

“…[5][6][7][8] Cardinal clinical features of this disorder are early-onset cardiomyopathy, progressive pigmentary retinal dystrophy, progressive sensorineural hearing loss, and childhood obesity. [9][10][11][12][13][14] Most affected individuals develop severe insulin resistance, hyperinsulinemia, or type 2 diabetes mellitus in early adulthood. 9 Other metabolic disturbances, such as hypothyroidism, hyperuricemia, and hypertriglyceridemia, as well as dermatologic findings, such as acanthosis nigricans and alopecia, may also occur.…”

“…9 Other metabolic disturbances, such as hypothyroidism, hyperuricemia, and hypertriglyceridemia, as well as dermatologic findings, such as acanthosis nigricans and alopecia, may also occur. [9][10][11][12][13][14] Dilated cardiomyopathy with infantile or adolescent onset and subsequent congestive heart failure occur in more than 60% of individuals with Alströ m syndrome. 9 Other variable clinical manifestations include respiratory failure with recurring infections, and asthma is often observed in infancy.…”

Alström Syndrome

“…The main causes of death in ALMS are from cardiomyopathy, pulmonary, kidney or liver failure , Benso et al, 2002. In the end stage, multiple organs are compromised, and sudden multiple organ failure is common.…”