Exploring the role of genetics in kidney diseases: Unraveling the complexities of inherited disorders

In spite of being individually rare, the hundreds of hereditary causes of chronic kidney disease presently known play a sizable role in both adult and pediatric disorders. The diagnosis of genetic kidney illnesses has been mostly based on conventional genetic methods, which significantly relied on the identification of big families with numerous affected members. We can analyse uncommon variants in sizable samples of unrelated individuals, thanks to the growing use of massively parallel sequencing and breakthroughs in genotyping imputation. This enables personalised patient care and major research advancements.

The term "chronic kidney disease" (CKD) refers to a broad category of illnesses marked by abnormalities in kidney structure or function. Kidney disease is a major cause of illness and mortality worldwide, with an estimated prevalence of 9 per cent. The broad-sense heritability estimates for CKD range from 19 per cent to 54 per cent depending on the biomarker used, which is similar to other common diseases.

Numerous uncommon conditions with a known genetic origin fall under the general phrase "genetic kidney disease." Over 600 monogenic diseases with urologic and renal characteristics have been discovered so far.

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Fewer than 1 in 2,000 people have almost all of these inherited disorders, yet taken together, they account for the fifth most prevalent cause of renal failure. A significant portion of cases are caused by a small number of monogenic disorders, but the majority are caused by numerous uncommon disorders.

The methods by which inherited disorders are passed down through families:

Autosomal dominant inheritance: There is a 50 per cent probability that each child of a person with an autosomal dominant condition will inherit the changed gene. Additionally, there is a 50 per cent possibility that the changed gene will not be passed on to offspring.In such situations, there are chances that the child's parents are unaffected, but the child might pass the illness on to his or her own offspring.

Autosomal recessive inheritance: Two carriers, or unaffected individuals who each have one changed copy of the gene for an autosomal recessive disorder, have a 25 per cent chance of giving birth to a child who is affected by the disorder. With every pregnancy, there is a 50 per cent chance of producing an unaffected child who is a carrier of the disorder, and a 25 per cent chance that the child won't have the disorder and won't be a carrier. If just one parent carries the mutated gene and the other parent doesn't, then none of their offspring will be affected, and there is a 50 per cent chance that each pregnancy will result in a carrier who is not impacted.

Kidney diseases that are inherited

There are more than 60 recognised inherited kidney diseases, ranging from very rare illnesses to prevalent conditions. Some kidney disorders that are inherited include:

1. Autosomal dominant polycystic kidney disease (ADPKD) is characterised by the development of many cysts in the kidneys. The degree of symptoms can vary. In most cases, symptoms appear between the ages of 30 and 40. Since ADPKD is a progressive condition, its signs and symptoms frequently worsen over time.

2. Alport disease is a kidney-damaging hereditary disorder that runs in families. Genes encoding collagen protein undergo alterations (mutations), which result in Alport syndrome. To keep the kidneys operating normally, collagen, an essential protein, is required. Due to damaged microscopic blood arteries in the kidney's glomeruli, people with Alport syndrome cannot filter the body's waste products and extra fluid. Due to mutations in the collagen genes, many persons with Alport syndrome also suffer from hearing issues and ocular anomalies.

3. Cystinosis is an inherited condition that is autosomal recessive and is brought on by receiving a defective copy of the cystinosin gene from each parent. An accumulation of cystine can result in crystal formation in persons with cystinosis. Cystinosis can have major hazardous effects on multiple organs such as kidneys as well as the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas.

You can opt for a form of medical examination known as genetic testing which looks for changes or differences in genes, chromosomes, or proteins. The findings of a genetic test can either confirm or disprove a suspected genetic problem, or they can be used to estimate a person's risk of contracting or passing on a genetic disorder.

(Authored byDr Sujit Chatterjee, CEO at Dr. LH Hiranandani Hospital, Powai, Mumbai)

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