For over 15 years, Dr Anthony Shum, a pulmonologist at the University of California, San Francisco has been studying a rare genetic disorder called the COPA Syndrome. It stands for coatomer subunit alpha and is a rare, inherited disorder that affects the lungs, joint, and kidney. The National Organization for Rare Disorder also notes that it is a genetic autoimmune disorder that is caused by mutations in the COPA gene. This disease affects families unpredictably—some individuals with the mutation develop severe lung damage early in life, while others remain completely healthy. Now, Shum’s team has discovered a protective genetic variant that may offer new hope for treatment.

A Breakthrough

Researchers found that some relatives of COPA Syndrome patients stayed healthy despite carrying the same COPA gene mutation that causes the disease. The key difference? These unaffected individuals had a protective version of another gene called HAQ-STING.

When scientists introduced HAQ-STING into diseased lung cells from COPA patients, the cells returned to a balanced state, suggesting that this gene could be used as a therapy.

“We really think HAQ-STING could be a gene therapy tool and a step toward a cure,” said Shum, whose findings were published in the Journal of Experimental Medicine.

Families Who Solved The Mystery

Shum’s journey into COPA Syndrome research began in 2011 when he treated a young woman, Letasha, who had severe lung bleeding. Her mother, Betty Towe, mentioned that Letasha’s sister, Kristina, had suffered from similar symptoms. Over the years, Betty had taken both daughters on a four-hour trip to UCSF for treatment. After tracing their family history, Shum discovered that their distant relatives in Texas and Oakland also had lung problems and arthritis. In 2015, Shum, along with scientists from Baylor College of Medicine and Texas Children’s Hospital identified the COPA gene mutation. They realized that it was the common factor behind the illness. However, only some of the 30 individuals with the mutation actually developed symptoms, leaving a major question unanswered.

The Domino Effect

It was established that it occurs when a mutated COPA gene causes another gene STING to go overdrive. The STING that helps fight infections in COPA patients, remain permanently active, which leads to chronic inflammation that damages the lungs, kidneys, and joints. In 2020, while studying STING’s role in the disease, researchers discovered a key variation: HAQ-STING. This version of STING, present in about one-third of the population, appeared to neutralize the harmful effects of the COPA mutation.

To confirm their theory, the scientists needed both affected and unaffected family members to participate in the testing. Letasha, Kristina and Betty immediately volunteered. The researchers then analyzed DNA samples from 26 COPA patients and their healthy relatives. They also conducted CT scans and blood tests to ensure that unaffected members did not have any hidden symptoms. When the findings were all clear, it was revealed that all the healthy individuals had HAQ-STING, while none of the COPA patients did. This was the first known case of a common gene variant completely protecting against a severe genetic disease.

Encouraged by this discovery, researchers tested HAQ-STING’s effects in a lab setting. They introduced it into diseased lung cells from COPA patients, and the cells returned to normal function.

Way Ahead

Shum believes HAQ-STING could lead to game-changing treatments, including:

• Prenatal gene therapy for babies diagnosed with COPA Syndrome before birth
• Aerosol delivery of HAQ-STING for adults, directly targeting the lungs

Before publishing their findings, Shum called Betty with the news—her own HAQ-STING gene had protected her from the disease. He also informed Letasha and Kristina, who were overwhelmed with relief and joy.

“We always believed Dr. Shum would get to the bottom of it,” said Letasha. “This discovery is going to change lives.”

As people across the globe observe World Kidney Day, experts are sounding the alarm over the dangerous everyday habits that are worsening your kidney function and paving the way for the development of chronic conditions.

Dr Neha Bhandari, Senior Consultant, Pediatric Nephrology, Aakash Healthcare exclusively tells Healthandme: "Kidneys are very crucial in ensuring that the body maintains its internal equilibrium by filtering wastes, fluid regulation, electrolytes regulation, and in the process of assisting in blood pressure regulation as well.

"Nevertheless, a number of general living habits that have developed as part of contemporary everyday activity such as high painkiller use, large intake of processed foods and progressively sedentary lifestyles have the potential of slowly damaging the kidney functions. Since the damage of the kidneys frequently happens without any symptoms, and has no symptoms in severe cases, such simple habits can become a serious problem in the long-term, without any treatment."

Dr A K Jayaraj, MBBS, MS (Gen Surgery), MCH (Urology) at Apollo Spectra Hospital, Chennai also told this publication: "From the painkillers people take to relieve pain to the food they eat and the lifestyle they lead, there are a number of factors that can affect the functioning of these small but powerful organs.

"Focusing on these three factors helps keep these internal filters running smoothly by supporting clear blood flow, steady blood pressure, and balanced energy levels."

Here are the habits you need to keep an eye out for to protect your kidneys:

1. The Hidden Danger of Pain Killers

"Pain killers, such as non-steroidal anti-inflammatory drugs (NSAIDs), are known to constrict the blood vessels that lead to the kidneys. Constricted blood vessels limit the ability of the kidneys to filter blood, and frequent use of painkillers in the long run may lead to scarring or chronic diseases in the kidneys. It is always better to use the lowest

dose possible and look for other alternatives to pain killers, such as physical therapy, bed rest or heat packs."

Moreover, Dr Bhandari added: "In the long run, the continuous intake of these kinds of medicines can cause long-term kidney damage to the person, particularly those who are already predisposed to other conditions like diabetes, high blood pressure, and dehydration or people who already have kidney disease. Overdosing with painkillers may also cause a situation called analgesic nephropathy which involves progressive renal damage and functional weakness of the kidney as a result of constant exposure to the drugs."

2. The Burden of Processed Foods

"What a person eats directly affects how hard their kidneys have to work. Modern processed foods are often a "triple threat" because of their high levels of salt, sugar, and chemical additives.

• "High Salt: Processed meats and canned goods are packed with sodium, which raises blood pressure. Since kidneys are filled with delicate blood vessels, high pressure can wear them out quickly.
• "Preservatives: Many packaged snack foods contain preservatives, which are chemicals used to extend the shelf life of the food product. These chemicals are much more difficult for the kidneys to flush out of the system than natural minerals, leading to a buildup of toxins in the blood. Fresh fruits, vegetables, and grains are much better for the kidneys, as they do not contain preservatives," Dr Jayaraj said.

3. The Importance of Fitness

While doctors around the world note that having an active lifestyle can do wonders for both mental and physical health, Dr Bhandari highlights the dangers of not incorporating a workout in your routine.

She tells Healthandme: "Lack of exercise leads to weight gain, poor metabolic health, insulin resistance, and blood pressure all of which are great risk factors of kidney disease. The immobility also impacts circulation and general cardiovascular health, which in turn indirectly impacts on the effectiveness of the kidney functionality needs as adequate blood flow is needed to make the kidney processes effectively.

"Those who work long hours sitting with little physical activity during the time can gradually be a contributor to the disease conditions, which increases the damage to kidneys without thinking of the side effects of the disease in the long term.

"Indirect contribution can also be made by hydration habits. Most people replaced water with sweet drinks or caffeinated ones or soft drinks, which may lead to metabolic disorders and an overload of the kidney. Proper filtration and aiding in the excretion of toxins and metabolic waste into the body is facilitated by the adequate water intake."

"Weight gain and high blood sugar are the primary causes of kidney failure. Daily exercise, such as a 30-minute walk every day, helps the body regulate blood sugar well and maintain healthy blood pressure at all times. This, in turn, does not overwork the kidneys and allows them to perform at optimal capacity," Dr Jayaraj advised.

Often referred as a "silent killer," Chronic Kidney Disease (CKD) is a progressive and irreversible condition where the kidneys gradually lose their ability to filter waste and excess fluids from the blood. When the kidneys fail, waste builds up to high levels in your blood, potentially leading to complications like heart disease or stroke.

Recent data from The Lancet and the Global Burden of Disease study reveals that out of nearly 14 crore Indians living with CKD, nearly 40 percent of diabetic patients and 40 percent of those with long-standing hypertension are at risk of developing CKD.

As CKD frequently shows no symptoms until nearly 90 percent of kidney function is already gone, Dr. Visweswar Reddy, Senior Consultant in Nephrology at SRM Prime Hospital, shares early signs everyone should look out for.

Early Signs Of Chronic Kidney Disease

He noted that one of the biggest challenges with kidney disease is that symptoms often appear very late said “Unfortunately, most of these symptoms appear only when more than 90 per cent of kidney function has already been lost.”

• Frothy Urine: Foamy urine refers to urine that appears bubbly or frothy in the toilet bowl indicating high concentrations of protein (proteinuria) from kidney stress.
• Frequent Urination: Rapid urination (or increased frequency/nocturia) is important in kidney disease because it often signals that the kidney's filters are damaged and cannot properly concentrate urine. This dysfunction causes the body to produce more dilute urine, requiring more frequent elimination to remove toxins and manage fluid balance.
• Swollen Feet: Swollen feet (edema) are an early indicator of kidney disease, occurring when damaged kidneys fail to remove excess fluid and sodium from the body. This fluid accumulates in tissues, causing swelling in the ankles, feet, legs, and sometimes the face. Early detection is crucial to prevent further kidney damage
• Loss of appetite and Vomiting: Both loss of appetite (anorexia) and vomiting are common symptoms in kidney disease, affecting 30–50 percent of dialysis patients. It is caused by the buildup of waste products (uremia), toxins, fatigue and cytokines, key drivers of chronic inflammation and fibrosis in both acute and chronic kidney diseases

Importance of early screening

• Irreversibility: As it causes permanent damage detecting it early is the only way to stop or slow down the progression before it reaches total kidney failure.
• Avoiding Dialysis: Timely medical care in the initial stages can preserve enough kidney function to prevent a patient from ever needing dialysis or a kidney transplant.
• Managing High-Risk Links: Since nearly 40% of diabetic patients and 40% of those with long-standing hypertension are at risk of developing CKD, screening allows doctors to catch the damage long before it becomes life-threatening.

Screening Option For Early Detection

• Serum Creatinine Blood Test: A serum creatinine blood test measures the level of waste product from muscle metabolism to evaluate kidney function. Healthy kidneys filter creatinine; thus, elevated levels often indicate kidney dysfunction, chronic disease, or acute failure. Normal ranges are typically 0.7–1.3 mg/dL for men and 0.6–1.1 mg/dL for women.
• Urine Examination: Urinalysis for kidney function evaluates urine for signs of damage, primarily checking for protein (albumin), blood, and waste products like creatinine to assess filtering capability.
• Blood Sugar Test: He said even a small blood test can be used to monitor for diabetes, which is the leading cause of kidney disease in India.

Who Is At Most Risk

• Individuals with Diabetes: Diabetes is the leading cause of chronic kidney disease, affecting roughly one in three adults with diabetes. High blood sugar damages the small blood vessels and filters (nephrons) in the kidneys over time, causing them to leak protein into urine and lose the ability to filter waste, which can eventually lead to kidney failur
• Those with Hypertension (High Blood Pressure): High blood pressure and kidney disease share a two-way relationship, acting as both cause and effect. Uncontrolled high blood pressure damages delicate kidney blood vessels, leading to chronic kidney disease. Conversely, damaged kidneys cannot regulate blood pressure, which causes hypertension to worsen.
• Family History: Family health is closely linked to kidney disease primarily through shared genetics, hereditary conditions, and shared environmental factors like diet and lifestyle. Having a first-degree relative (parent, sibling) with chronic kidney disease (CKD) or kidney failure significantly increases a person's risk.
• Adults Over 18 with Risk Factors: Even younger adults should be screened if they have any of the underlying conditions mentioned above.

Obesity, diabetes, and kidney diseases are three serious health issues that are linked to one another. These health issues have created a dangerous health triangle that is harming millions of people across the world.

When any of these health issues appear in a person’s health profile, the chances of developing the other health issues are high. These health issues are interconnected and may have a serious impact on a person’s health.

Obesity is a serious health issue that increases the risk of developing diabetes. Obesity increases the risk of developing diabetes because the extra fat accumulated in the abdomen interferes with the production of the hormone called insulin.

The hormone insulin helps the body regulate the levels of glucose present in the blood. If the levels of glucose are not regulated in the blood, a person may develop diabetes. If diabetes is not controlled over time, it may harm the kidneys.

Obesity Affects Kidney Function

The kidneys have an important function in filtering out wastes and extra fluids from the blood. However, high blood glucose levels, which occur in diabetes, can affect the small blood vessels in the kidneys. This results in diabetic kidney disease, also referred to as diabetic nephropathy.

This disease gradually impairs the function of the kidneys. If not treated, it can lead to chronic kidney disease or even kidney failure.

Being obese can also affect kidney function. This is because being obese forces the kidneys to work harder, thus leading to impairment.

Being obese can also lead to high blood pressure, which can cause kidney disease. It has been observed that if high blood pressure and diabetes occur simultaneously, there is an increased chance of kidney damage.

How To Keep Your Kidneys Healthy

The good news is that this health triangle can be prevented or managed through a healthy lifestyle. Eating a healthy meal, exercising regularly, and keeping a healthy body weight are some of the steps that can be taken.

Monitoring blood sugar levels as well as blood pressure is important, especially for those who are overweight or have a family history of diabetes.

By taking early steps to diagnose and treat medical conditions, as well as making healthy lifestyle changes, it is possible to break the cycle of obesity, diabetes, and kidney disease.