What are the symptoms of hereditary diabetes insipidus

What are the symptoms of hereditary diabetes insipidus

Diabetes insipidus may also be hereditary to a certain extent, with central diabetes insipidus being the most common. When diabetes insipidus occurs, timely treatment can be carried out, but in order to detect the presence of diabetes insipidus in time, you need to know more about its symptoms.

Causes of hereditary diabetes insipidus

A small number of central diabetes insipidus have a family history and are inherited in an autosomal dominant manner, caused by mutations in the neurohypophysis gene. Recent studies have found that neurohypophysis is a precursor protein encoded by the same gene, which is produced by enzymatic hydrolysis during the process of flowing along the pituitary bundle axon to the neurohypophysis. Multiple mutation sites of the neurohypophysis precursor gene have been found.

The known mutation sites are not in the gene coding region, but in the signal peptide region or the neurohypophysis gene region. The mutation causes the destruction of the secondary structure of the protein, which in turn affects the hydrolysis of the precursor protein, the binding of the precursor, and the transport and processing of the complex within the cell. Moreover, the accumulation of abnormal precursors has a cytotoxic effect on neurons, thereby causing a decrease in the synthesis of neurons in the hypothalamus.

Symptoms of diabetes insipidus:

1. When suffering from diabetes insipidus, patients will show symptoms such as thirst, polydipsia, and polyuria. Many patients suffer from polyuria, which causes thirst and polydipsia. The amount of water they drink a day can reach several liters to 10L or more. Therefore, many patients like to drink cold drinks and cool water.

2. If patients with diabetes insipidus can ensure adequate water intake, they may experience mild dehydration symptoms, reduced saliva and sweat, dry skin, poor sleep, dry mouth, loss of appetite, constipation, memory loss, and affected rest.

3. If the patient does not replenish enough water, hyperosmotic symptoms may occur, which are neurological symptoms caused by dehydration of brain cells. They can easily lead to symptoms such as headache, myalgia, accelerated heart rate, temperament changes, mental changes, irritability, delirium, etc. In severe cases, it can also lead to coma, high fever or hypothermia.

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