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Inherited Kidney Diseases

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Do you have parents who have or have had a kidney disease? If you do, then you may be at risk for certain types of hereditary kidney diseases! However, it is vital to note that a lot of times, family history and genetic testing results can both modify the chances of inheriting a genetic condition.

Types of Inherited Kidney Diseases

There are more than 300 genetic kidney disorders, and while many of them are rare, some are quite common. A number of these disorders affect only the kidney, while others can affect different organs too. Some of them are:

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Categorized by the rampant growth of cysts in the kidneys, ADPKD is the most common type of inherited kidney disease. It is progressive, so as time goes by, symptoms increase in severity. For most people, the disease starts developing between ages 30 and 40. Some of the common symptoms are:

  • Headaches
  • Kidney cysts
  • Back and side pain
  • High blood pressure
  • Liver and pancreatic cysts
  • Abnormal heart valves
  • Urinary tract infections
  • Brain aneurysms

Cystinosis

This is an autosomal recessive inherited disorder, which means that it occurs when an individual receives a distorted copy of the cystinosin gene from each parent. A build-up of this gene can lead to the formation of crystals. Cystinosis can impact many body parts, including muscles, eyes, brain, and heart. It targets white blood cells, thyroid gland and pancreas, which eventually leads to causing a number of kidney problems.

Nephronophthisis

Characterized by inflammation and scarring that affects kidney function, this disease leads to anemia, tiredness, excessive thirst and increased urine production. Individuals suffering from nephronophthisis can also develop fluid-filled cyst in the kidneys.

Alport Syndrome

This disease is caused by changes in collagen protein genes. Many people with Alport syndrome have hearing issues and eye problems.

Gitelman Syndrome

This disease causes an impairment in the kidneys’ function when an imbalance of magnesium, potassium and calcium ions in the body, among many others, takes place. People with this disease experience tiredness, heart palpitations, low blood pressure and salt craving among other symptoms.

Barter’s Syndrome

Similar to Gitelman syndrome, this rare disease causes the loss of sodium, potassium, acid, calcium and magnesium in the urine.

Fabry Disease

This disease causes visual problems and burning sensations in the skin. It also leads to heart disease and can be quite difficult to diagnose.

Tuberous Sclerosis Complex (TSC)

Symptoms of TSC appear before birth and can be noted during ultrasounds. Brian tumors, seizures, intellectual disability appear in childhood, while in adulthood, kidney and pulmonary symptoms become more common.

Other inherited kidney diseases include thin basement membrane disease, which can lead to blood in the urine, and focal and segmental glomerulosclerosis (FSGS) which causes swelling and malnutrition.

Causes

The primary cause for inherited kidney diseases is the modification in your genes or chromosomes that contain those genes. While these mutations are mostly passed from parents to their children, they can also occur randomly on their own. It is also not necessary for parents to have the disease for them to pass it on. Being a carrier of the genes is enough. Some risk factors of inherited kidney diseases are:

  • Family history
  • Kidney infections
  • Kidney stones
  • High blood pressure
  • Diabetes
  • Heart disease

Symptoms

Symptoms of hereditary kidney diseases vary from person to person. They can either be mild or severe, and in a lot of people, they show up very late. While each kidney disease has its own unique symptoms, some common ones are:

  • Edema, that is, swelling in feet or ankles
  • Headache
  • Confusion
  • Back and side pain
  • High blood pressure
  • Fatigue
  • Weakness
  • Dry or itchy skin
  • Muscle cramps
  • Swelling on the belly
  • An increase or decrease in urine output
  • Blood in urine

If you notice any of these signs, visit the Best Nephrologist in karachi as soon as possible. Prompt treatment for kidney diseases is really important.

Treatment

Hereditary kidney diseases have no cure. But one way of treating them is by slowing the progression of the symptoms, and making crucial changes to your lifestyle. Good treatment options include dialysis and kidney transplants. Best Nephrologist in islamabad recommends patients to eat healthy foods with low sodium and added sugar. Additionally, exercising and monitoring your weight is a great way to manage kidney disease.

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