Nephrogenic diabetes insipidus is a rare, chronic condition that affects the kidneys and is not related to diabetes mellitus. It is caused by a defect in the ability of the kidneys to concentrate urine and conserve water and, as a result, people with nephrogenic diabetes insipidus excrete large amounts of dilute urine and are constantly thirsty. This condition can lead to dehydration, which can be serious if not treated. If you have been recently diagnosed with nephrogenic diabetes insipidus you may be feeling overwhelmed and confused. We will discuss all you need to know about nephrogenic diabetes insipidus, from its causes to how to treat it, to help you live a better, healthy life.
What is nephrogenic diabetes insipidus?
Nephrogenic diabetes insipidus, also called NDI, is a rare hormonal disorder that affects the kidneys. It involves the antidiuretic hormone (ADH) and your kidney’s inability to recognize it. When the antidiuretic hormone is released, your brain is telling your kidneys to retain water due to a water deficit from dehydration or fluid loss. If you have nephrogenic diabetes insipidus, your kidneys may not recognize or only partially recognize the antidiuretic hormone which results in its inability to conserve water. This allows your kidneys to excrete diluted urine when it should be retaining that water which can lead to several different medical problems.
Are there other names for nephrogenic diabetes insipidus?
Your doctor may refer to nephrogenic diabetes insipidus by a number of other names. These include:
- ADH-resistant diabetes insipidus
- Congenital nephrogenic diabetes insipidus
- Renal diabetes insipidus
- Vasopressin-resistant diabetes insipidus
- Nephrogenic DI
What are the symptoms of nephrogenic diabetes insipidus?
Depending on your age and how severe the symptoms are, there are a number of different symptoms that could lead to a nephrogenic diabetes insipidus diagnosis. As an adult, these common symptoms of diabetes insipidus include:
- Excessive thirst
- An excessive amount of urine that is pale and diluted also called polyuria
- Frequent urination
- Preferring cold drinks
You also may start suffering from dehydration if left untreated. The symptoms of dehydration include:
- Muscle pains
- Unexplained weakness
Infants and children can also suffer from nephrogenic diabetes insipidus too. When they do their symptoms include:
- Extremely heavy, wet diapers
- Unexplained fevers
- Developmental delays
- Weight loss
If the condition is severe, your body can produce up to 20 quarts of urine a day when the average adult only produces one to two quarts. If you or your child have these symptoms it is important to see your doctor or medical professional immediately. If left untreated, nephrogenic diabetes insipidus can lead to kidney damage, bladder damage, infections, and ultimately kidney failure.
What causes nephrogenic diabetes insipidus?
There are two main types of nephrogenic diabetes insipidus, congenital (inherited), and acquired. Let’s look at both causes below.
Congenital nephrogenic diabetes insipidus is a genetic disorder in a hereditary form that is passed down from parents to their children and is the form usually present in infants. It is caused by a mutation or change in the AVPR2 or AQP2 genes. The AVPR2 gene controls the vasopressin v2 receptor, which helps increase water absorption in the kidneys, and when it isn’t working correctly it can lead to nephrogenic diabetes insipidus. The AQP2 aquaporin 2 gene controls the water channel in the kidneys and when it malfunctions it can also lead to nephrogenic diabetes insipidus. The AVPR2 gene mutation is more common than the AQP2 gene mutation.
Acquired forms of nephrogenic diabetes insipidus are the most common form and can happen at any age. It can be caused by a number of different things including:
- Chronic kidney disease, particularly polycystic kidney disease
- Medications, the most frequent being lithium which is frequently used to treat bipolar disorder
- Blockage of the urinary tract
- Hypercalcemia, or excess calcium in the blood
- Hypokalemia, or low levels of potassium in the blood
Potassium and magnesium are both electrolytes and both conditions are due to an electrolyte imbalance.
Who does nephrogenic diabetes insipidus normally affect?
Nephrogenic diabetes insipidus occurs more frequently in males than females but it can happen to anyone at any age and is most common in infants and children. Since it can be inherited, even if your mom or dad didn’t have it they can still have the gene mutations and pass it on to you.
How do doctors diagnose nephrogenic diabetes insipidus?
If you or your child are displaying symptoms of nephrogenic diabetes insipidus, the first step will be to visit your doctor. They will likely ask you a series of questions about your medical history, symptoms, and run a physical exam. After that, they will order a few tests to confirm the diagnosis which can include:
Water deprivation test
This test is used to see how well your body conserves water. You will be asked to not drink any fluids for a set period of time and then your urine and/or blood will be tested for osmolality. This means the test will look for particles and solids such as sugar, salts, and minerals in your blood or urine and the doctors or specialists will interpret the results.
Magnetic resonance imaging (MRI) test
An MRI may be conducted by your doctor to make sure there isn’t a tumor or any abnormalities on your pituitary gland. This noninvasive test uses a magnetic field and radio waves to create detailed images of your body.
If nephrogenic diabetes insipidus is suspected to be congenital, your doctor may order genetic testing. This will help determine if the AVPR2 or AQP2 genes are mutated and causing nephrogenic diabetes insipidus in its genetic form.
An ultrasound test uses sound waves to create an image of the inside of your body. It can be used to look at the kidneys and see if they are functioning properly.
How do you treat nephrogenic diabetes insipidus?
Due to it being a rare disorder, nephrogenic diabetes insipidus can be very difficult to treat. There is no one-size-fits-all answer for this question as treatment will vary depending on the underlying cause of nephrogenic diabetes insipidus. However, some common treatments include:
Nephrogenic diabetes insipidus can cause dehydration so it’s important to make sure you’re hydrated by drinking enough fluids including water, juices, and sports drinks. It’s important to avoid caffeinated beverages as they can increase urine output and lead to dehydration.
Depending on the underlying cause of nephrogenic diabetes insipidus, your doctor may prescribe or switch your medication to help relieve symptoms. This can include stopping or switching medications such as lithium if it is the cause, or taking new medications to reduce urine. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen can be used to help decrease urination but please talk to your doctor or health care professionals before taking any over-the-counter medication. Diuretics such as hydrochlorothiazide and amiloride can also help by reducing the amount of salt in your kidneys which helps with water retention.
Your doctor may recommend making some dietary changes, such as eating a low-salt diet or eating low-protein meals which all can help combat nephrogenic diabetes insipidus.
Nephrogenic diabetes insipidus is a rare disorder that affects the way your kidneys retain water. There are a number of different symptoms that can vary by age but extreme thirst, frequent and excessive urine production that is pale due to dilution with water, severe dehydration, and wanting cold drinks are the most common although there are others. It can be caused by genetic factors through genetic mutations or it can be acquired because of medications, blockage of the urinary tract, chronic kidney disease, or an electrolyte imbalance. Treatment of this disorder is often difficult; however, some common treatments include staying hydrated through proper fluid intake, switching or adding medications, and dietary changes. If you think you or your child may have nephrogenic diabetes insipidus, please consult with your doctor or health care provider.
References and Sources:
Fact Checked and Editorial Process
Diabetic.org is devoted to producing expert and accurate articles and information for our readers by hiring experts, journalists, medical professionals, and our growing Diabetic.org community. We encourage you to read more about our content, editing, and fact checking methods here. This was fact checked by Erik Rivera and medically reviewed by Dr. Angel Rivera.
Owner, entrepreneur, and consumer health enthusiast.