When Wolfram syndrome is caused by mutations in the WFS1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some studies have shown that people who carry one copy of a WFS1 gene mutation are at increased risk of developing individual features of Wolfram syndrome or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, other studies have found no increased risk in these individuals.
Hypogonadism is seen in some patients. Impaired fertility and erectile dysfunction in male patients and infertility, amenorrhea, and oligomenorrhea in female patients have been reported. These conditions could be treatable and managed in standard way.
Most patients with Wolfram syndrome have diabetes mellitus and bladder dysfunction in combination with diabetes insipidus. The dose escalation of desmopressin for the treatment of diabetes insipidus should be carefully done because demopressin may cause hyponatremia. If the sodium in your blood is too low, you have a condition called hyponatremia. You need some sodium in your bloodstream to control how much water is in and around the cells in your body. As a result of low sodium, the amount of water in your body rises and causes your cells to swell. This can lead to many different problems. Some of them are mild. Others can be serious and even life-threatening. Hyponatremia is a common clinical problem in patients with Wolfram syndrome that requires careful management.
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