Chronic kidney disease

Chronic kidney disease, or chronic kidney disease, involves a gradual loss of kidney function. This condition can lead to the accumulation of fluids, electrolytes and wastes in the body, which increase the risk of other complications such as heart or vascular failure. It is an important health problem because its prevalence is approximately 7% in people over 30 years of age, and can reach 20% in people over 60 years of age.

Chronic kidney disease is considered to be the result of an accumulation of pathologies that affect the kidney in a chronic and irreversible manner. 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, there are other environmental factors that can increase the risk of developing chronic kidney disease:

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

Chronic kidney disease (CKD) is responsible for a public health burden with multisystemic complications. For the time being, although the hereditary nature of CKD is known, the role of genetics is unknown. Recent association studies have begun to shed light on the knowledge of the genetic basis of the pathology. A GWAS study, carried out in more than 600,000 controls and 64,000 affected individuals, found 23 susceptibility loci for chronic kidney disease. Among the genes found, NFATC1, expressed in an important way during kidney development, or transporters such as OCT2, with an important function in renal, hepatic and intestinal excretion, stood out.

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 in order to avoid their development or progression. Actions include:

  • Control blood pressure.
  • In case of diabetes, control sugar levels.
  • Healthy habits such as eating a balanced diet and exercising frequently.
  • Avoid smoking.

Number of observed variants

13.5 million variants

Number of risk loci analyzed in the study

22 loci

Bibliography

Wuttke M, Li Y, Li M, et al. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nature Genetics. 2019 Jun;51(6):957-972.

National Institute of Diabetes and Digestive and Kidney Diseases (NIH) [April 2022]

Mayo Clinic [April 2022]

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