Diabetes caused by genetic mutations. Alström Syndrome

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Alström syndrome is a rare genetic disorder associated with various symptoms that affect multiple organ systems of the body. It is caused by mutations or defects in the ALMS1 gene. It encodes the protein involved in cell cycle control, ciliary function, and intracellular transport.

It is generally characterized by hearing and vision problems, obesity in childhood, insulin resistance, heart disease, and slowly progressing kidney dysfunction. Additional symptoms of Alström syndrome may include lung, liver, kidney, and endocrine dysfunction. Although some patients may experience developmental delays, intelligence is usually not affected.

Alström syndrome symptoms

Retinal degeneration. It is usually one of the first signs of Alström syndrome. Children with this condition tend to have nystagmus (wobbly eyes) and extreme sensitivity to light. Poor vision can be present even in young children, and gradual vision loss can eventually lead to blindness.

Hearing loss. It is usually noticed before the age of 10, and the severity of hearing problems can vary considerably.

Cardiomyopathy. With this condition, the heart cannot pump as well as it should. It may partially improve but can recur in later life.

Obesity. Younger people with Alstrom syndrome tend to have a lower energy requirement and are generally less active. Therefore, they have a greater risk of obesity.

Type 2 diabetes. In young adulthood, patients with Alstrom syndrome can become resistant to insulin and develop type 2 diabetes. In addition, people with insulin resistance also tend to have high blood fat levels.

Kidney failure. It can be acute or can develop over a long period of time. There are multiple causes of kidney failure, one of which is diabetes.

Orthopedic and rheumatology problems. These may include arthritis, short stature, a curvature of the spine, and spondylitis (inflammation of vertebrae).

Other Alström syndrome symptoms can include defects of the reproductive system, low testosterone, polycystic ovaries, and dark discoloration of the skin.

Managing Alström syndrome

Currently, there is no cure for Alström syndrome. But there are ways to manage individual conditions. For example, in case of sensitivity to bright light wearing dark glasses would help. In addition, it may slow down retinal degeneration as well. Hearing aids can be used for hearing loss. Cardiomyopathy can be treated with various drugs, such as digoxin, frusemide, and ACE inhibitors. Following a healthy and balanced diet and staying physically active is essential to keep weight under control and manage type 2 diabetes.


Sources:
1. Diabetes UK
2. National Organization of Rare Disorders

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