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Genetic Kidney disease

Genetic kidney diseases are those diseases that are inherited from parents. Some genetic diseases affect multiple organs, while the effect of other genetic diseases is confined only to the kidneys. Over 300 genetic disorders can affect the kidneys. The diagnosis of genetic diseases is made through genetic testing and the management depends upon the type and severity of the disease.

"Nephrology"

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  • Adult Polycystic Kidney Disease: The disease is characterized by several kidney cysts. The majority of the patients develop symptoms between the ages of 30 and 40 years. Symptoms experienced depend upon the severity of the disease and may include pain in the back, headaches, urinary tract infections, kidney stones, and pancreatic and liver cysts.
  • Alport's Syndrome: Collagen is a protein in the kidney that is vital for maintaining healthy kidney function. Alport’s syndrome is caused due to alteration in the genes associated with collagen. Patients with this condition have damaged blood vessels of the glomeruli (cleaning units). Thus, the kidney cannot filter the waste, and there is an accumulation of excessive fluid in the body.
  • Fabry Disease: This condition occurs due to the inability of the body to produce alpha-galactosidase A. This results in the accumulation of glycosphingolipids in the blood vessel walls. The deposition may also occur in the renal tubular and glomerular epithelial cells. Fabry disease may lead to end-stage renal disease and premature death.
  • Cystinosis: Patients with this condition have an increased risk of forming crystals due to excessive cystine accumulation. It may lead to severe kidney problems.
  • Nephronophthisis: It is an autosomal recessive inherited condition that causes scarring and inflammation, resulting in kidney dysfunction. The symptoms of nephronophthisis include extreme fatigue, excessive thirst, and increased urination. The condition also results in the development of fluid-filled cysts in the kidneys.
  • Gitelman Syndrome: Patients with Gitelman syndrome have a defect in kidney function that does not allow the kidneys to reabsorb salts. It results in altered electrolyte concentrations in the blood. As a result, patients experience frequent urination, dizziness, low blood pressure, salt cravings, thirst, fatigue, and muscle cramping.
  • Tuberous Sclerosis Complex: Although the condition mostly affects the brain and skin, patients may also develop tumors or kidney lesions. The symptoms include hypertension and chronic kidney disease.

Faq's

There is no cure for autosomal recessive polycystic kidney disease. The doctor may prescribe certain treatment options to manage the symptoms. These include dialysis, antihypertensive medications, antibiotics for infection, and kidney transplant.

The most important risk factor for hereditary kidney disease is family history. However, other risk factors also increase the complications of hereditary kidney diseases. These include heart disease, diabetes, kidney infections, high blood pressure, and kidney stones.