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Chronic Kidney Disease, Genetic Testing

Chronic kidney disease (CKD) is when the kidneys gradually lose function over time. Common causes include diabetes and hypertension. CKD can develop into kidney failure, requiring dialysis or kidney transplantation. Treatment includes management of underlying medical conditions, lifestyle modifications, and medications to slow the progression of kidney damage. The assessment of the Polygenic Risk Score for chronic kidney disease is based on examining 22 gene polymorphisms.

Genetic testing for chronic kidney disease is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Chronic kidney disease is considered to be the result of an accumulation of pathologies that affect the kidney chronically and irreversibly. The pathologies that can lead to chronic nephropathy are:

  • Diabetes type 1 and 2
  • Hypertension
  • Glomerulonephritis
  • Interstitial nephritis
  • Polycystic kidney disease
  • Vesicourethral reflux
  • Recurrent renal infection (pyelonephritis)

In addition to these pathologies that can cause renal damage, other environmental factors can increase the risk of developing chronic kidney disease:

  • Smoking
  • Obesity
  • Ethnic origin is more common in people of African-American or Asian descent
  • Age
  • Use of some medications
Symptoms

Signs and symptoms of the disease manifest over time and are most evident in advanced stages. They include:

  • Fatigue and weakness
  • Loss of appetite
  • Nausea or vomiting
  • Insomnia
  • Muscle cramps
  • Edemas in lower limbs (swelling of feet and ankles)
  • Eyelid edema (swelling of the eyes)
  • Dry and itchy skin
  • Hypertension
  • Polyuria (need to urinate more frequently) and nocturia (need to urinate more, especially at night)
  • Shortness of breath (if fluid builds up in the lungs)
Prevention

Chronic kidney disease can appear at any age, but it is more frequent after 65 years of age. Prevention involves preventing, controlling, and/or treating those disorders that can cause kidney damage to avoid their development or progression. Actions include:

  • Control blood pressure
  • In the case of diabetes, control sugar levels
  • Healthy habits such as eating a balanced diet and exercising frequently
  • Avoid smoking
Additional information
Results Time4 - 5 Weeks
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