How is nephrogenic diabetes insipidus diagnosed and what are its clinical manifestations

Nephrogenic diabetes insipidus places a heavy burden on the kidneys and bladder, and if it persists for a long time it can lead to kidney failure. The clinical manifestations of nephrogenic diabetes insipidus are generally very obvious, such as polyuria, fever, bladder distension, etc.

diagnosis

1. Clinical manifestations

1. Incidence of the disease: 90% of hereditary cases occur in males, with sex-linked dominant inheritance, most of which are complete phenotypes and severe conditions. It is less common in women, and transmission in women is generally asymptomatic. Most of them are incomplete phenotypes and the condition is mild. Most cases develop soon after birth, but symptoms may not appear until the age of 10.

2. Symptoms

(1) Drinking a lot and feeling thirsty.

(2) Polyuria and persistent hypotonic urine.

(3) Intellectual and growth and development disorders, etc.

(4) Newborns often experience high fever and convulsions due to dehydration, and the symptoms may gradually improve with age.

(5) Polyuria may cause bladder distension and. Hydronephrosis.

2. Laboratory examination

1. Urine specific gravity: Urine specific gravity is reduced (1.001-1.005), and urine osmotic pressure is mostly between 50 and 180 mmol/L

2. Blood tests

(1) Due to blood concentration, hemoglobin and hematocrit increase.

(2) Increased blood sodium and blood chloride.

3. Diagnostic Tests

1. No reaction to the hypertonic saline test.

2. No response to the vasopressin test (partial response may be seen in patients with incomplete phenotype).

When the plasma osmotic pressure is 280mmol/L, plasma arginine vasopressin increases significantly, and water deprivation test is generally not performed because it may increase the risk of water loss.