Diabetes caused by genetic mutations. Wolfram Syndrome

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Wolfram syndrome is a complex condition caused by a genetic disorder. It is typically characterized by childhood onset of insulin-dependent diabetes mellitus and progressive optic atrophy (degradation of the optic nerve). Patients with Wolfram syndrome also develop hearing loss and diabetes insipidus, which causes an imbalance of fluids in the organism. Another name for the syndrome is DIDMOAD, which stands for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

In most cases, Wolfram syndrome is associated with changes in the WFS-1 gene. Less severe mutations in the WFS-1 gene can cause WFS1-related disorders that include only some of the characteristics of Wolfram syndrome. For example, hearing loss without diabetes or other factors.

Symptoms

Wolfram syndrome can progress differently and vary in symptoms.

Diabetes mellitus. It is different from type 1 diabetes. It is not an autoimmune condition and does not lead to complications like retinopathy or nephropathy. However, it is treated in the same way as type 1 diabetes. Therefore, treatment includes insulin injections, blood testing, a healthy balanced diet, and regular physical activity.

Diabetes insipidus. In this case, the organism is not making enough hormone vasopressin and cannot concentrate urine. This condition makes you urinate more frequently, and you can get very thirsty. Diabetes insipidus is present in about half of people with Wolfram Syndrome.

Optic atrophy. At some point in life, it happens to all patients with Wolfram syndrome. It is characterized by a damaged optic nerve, which causes color blindness and gradual loss of vision.

Deafness. About two-thirds of people with Wolfram syndrome have problems with hearing, and about one in four of them need a hearing aid.

Renal problems. Even if the symptoms of diabetes are controlled, you can still get renal problems such as needing to urinate frequently, bedwetting, and loss of bladder control.

Neurological problems. These include loss of balance, breathing difficulties, loss of taste and smell, depression. About a quarter of patients with Wolfram syndrome also have a mental health problem at some stage.

Chronic fatigue. It is also a characteristic of Wolfram syndrome. As the condition progresses, patients will need significantly increased amounts of sleep.

Treatment

Currently, there is no cure for Wolfram syndrome. But some of the elements of the syndrome can be treated. Insulin therapy is used for diabetes mellitus. Diabetes insipidus can be treated with vasopressin. While there is no treatment for vision loss, hearing aids can help with loss of hearing. Some medications can be used for neurological symptoms, and renal problems may be treated by catheterization.


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

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