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Inherited syndrome with diabetes mellitus; cardiac, hepatic, and renal involvement; and progressive visual and hearing loss.

First described in 1959 by Carl Henry Alström, Bertil Hallgren, L.B. Nilsson, and H. Asander, all Swedish physicians.

Approximately 200 patients with Alström syndrome have been reported since the first description in 1959. The genetic defect of this autosomal recessive inherited disorder has been mapped to 2p13-p12.

The syndrome results in progressive pigmentary retinopathy (cone-rod dystrophy) and often cataract. Early loss of central vision (in contrast to loss of peripheral vision first in retinitis pigmentosa) results in nystagmus. Light perception usually is lost by age 20 years. Generally mild-to-moderate obesity, advanced bone age, growth retardation with short stature secondary to growth hormone deficiency, and sensorineural hearing loss (mild-to-moderate) are additional features. Alström syndrome can be difficult to diagnose, and noninsulin-dependent diabetes mellitus developing in late childhood/early adulthood may finally lead to the diagnosis. Insulin resistance seems to be responsible for the decreased glucose tolerance and diabetes mellitus. Unresponsiveness of target organs to the action of other hormones (vasopressin, gonadotropins, ACTH) has been suspected. Later in life, patients suffer from progressive chronic nephropathy with renal insufficiency, hepatic failure, atherosclerosis, and congestive heart failure secondary to dilated cardiomyopathy (myocardial fibrosis has been demonstrated at autopsy and on myocardial biopsies, which is not necessarily related to coronary artery disease). However, an increasing percentage (up to 35%) of patients with infantile cardiomyopathy has been described in the last years. Adolescent and adult forms also exist and affect approximately 25% of patients, usually manifesting between adolescence and age 40 years. Severe pulmonary interstitial fibrosis with pulmonary hypertension has been reported. Hypersecretory lungs is a less common finding. Abnormal liver function test results in early childhood are common. The disease often progresses to hepatic cirrhosis and hepatic failure in the second or third decade of life. Other liver findings reported include chronic, nonspecific, lymphocytic hepatitis; patchy hepatic necrosis; and hepatosplenomegaly with ascites and portal hypertension. The first signs of renal disease may be polyuria and polydipsia as a result of a tubular defect secondary to interstitial fibrosis. Renal biopsy often reveals diffuse glomerulosclerosis, tubular atrophy, and interstitial fibrosis. End-stage renal disease is a late finding but often occurs before age 20 years. Urologic problems affect more than 50% of patients and are characterized by detrusor-urethral dyssynergia, which may result in lower abdominal and perineal pain. Symptoms include incontinence, retention, and recurrent urinary tract infections. Male hypogonadotropic hypogonadism has been described and results in low plasma testosterone levels secondary to low plasma gonadotropin concentrations. These males often have small external genitalia and inadequate secondary sexual development at puberty, often associated with gynecomastia. Subclinical hypothyroidism has been described. Approximately one third of Alström syndrome patients have a varying degree of kyphoscoliosis. Although some patients with mental retardation have been described, these patients most often are mentally normal.

Patients require extensive workup before they undergo anesthesia. ...

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