Why genetic disorders can make our kidneys vulnerable

Why genetic disorders can leave our kidneys vulnerable

Some diseases are said to run in families when more than one person in a family has the same type of disease

Why genetic disorders can leave our kidneys vulnerable

Which makes kidneys vulnerable. Wikipedia Commons

Kidneys can be affected by many diseases. The most common causes of kidney disease are diabetes mellitus, hypertension, drug-induced kidney injury (drugs toxic to the kidneys can damage the kidneys), and finally hereditary and genetic diseases.

According to current medical progress, about 60 genetic diseases are known to directly or indirectly affect the kidneys. These are relatively uncommon and symptoms can range from mild to severe. Special tests and expertise are required to identify these diseases and plan their management. Sometimes a combined approach to diagnosing these diseases is required, as these diseases can affect different parts of the body (organs) at the same time.

What are genetic diseases?

Some diseases are said to run in families when more than one person in a family has the same type of disease. For example sickle cell anemia, thalassemia etc. These are caused by genetic mutations and can be passed on from parent to child. Some types of kidney disease can be inherited due to genetic defects and can run in families.

Although rare (less than 10 percent of all kidney disease), the common genetic conditions that affect the kidney may include the following:

  1. Autosomal dominant polycystic kidney disease (ADPKD) – this is the most common genetic condition that can run in families and causes kidney filters (cysts) to swell and gradually replace the entire kidney with cysts leading to end-stage kidney disease requiring lifelong dialysis or transplantation . This disease affects one in 800 people
  2. Autosomal recessive polycystic kidney disease (ARPKD): This condition is also similar to the aforementioned ADPKD. The disease manifests itself in early to late childhood. This disease affects 1 in 20,000 people
  3. Thin basement membrane disease, Gitelman and Bartter syndrome, Alports syndrome affecting collagen, cystinosis, Fabry disease, nephronophthisis, and tuberous sclerosis are some other diseases, which are genetic in origin and run in families.

There are diseases that appear to affect multiple family members and can be identified as running in families, but may not be due to genetic mutations. Genetic diseases are not in an individual’s control, but non-genetic diseases are in one’s control. Environmental causes, pollutants, a person’s or family’s lifestyle, and dietary habits in a combination of genetic factors can cause these diseases. Environmental and social factors influence and alter genes so that they mutate for better or for worse.

A healthy lifestyle and a good environment free of pollutants help to prevent genetic changes and thus prevent many diseases. Some of these lifestyle factors include avoiding smoking or tobacco use. Consuming plenty of fresh fruits and vegetables with plenty of exercise.

Genetic diseases of the kidneys have been extensively researched and now have advanced treatments that can prevent organ and tissue damage. It is important to identify and diagnose early to prevent further injury. Further, if a family is known to have these genetic diseases, future generations and pregnancies in those families can be screened for the presence of these genetic variations in the womb and timely intervention can be made to prevent a child from being born with these diseases. performed in the current scientific era.

The author is a consultant nephrologist and kidney transplant physician at Mumbai’s Global Hospital, Parel, Mumbai. Views are personal.

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