A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

Delhi's Air Quality Index today recorded 'severe' in several location. The Central Pollution Control Board (CPCB) data from 40 monitoring stations from across the city showed AQI above 401 at 7.05 am on Wednesday morning. City's average AQI stood at 376.

While it has only been three days into December, the AQI levels have undergone severe changes. On November 30, Delhi's AQI was recorded at 279, on December 1, it was recorded at 304, while on December 2, the AQI went up to 372.

Amid all this, Dr Ritu Singh, Director Professor and HOD, Department of Biochemistry at Lady Hardinge Medical College posted on her Instagram, what she calls the 'only steps to save your lungs in Delhi".

What Does the Doctor Say?

"If you’re living in Delhi right now, the first line of protection is simple: avoid breathing unfiltered air. If you can’t leave the city, wear an N95 mask every time you step outside or move away from a HEPA-filtered space," says Dr Ritu Singh.

The doctor points out that keeping a high quality HEPA filter at home and at your workplace is essential. She points out that though it may be expensive, but one should know that their "lungs are not replaceable". She says, "Yes, spend all your hard earned money on HEPA filters because the lung is not replaceable."

What Is HEPA Filter? How Does It Help?

As per the US Environmental Protection Agency (EPA), HEPA or also known as the high efficiency particulate air is a type of filter that can theoretically remove at least 99.97% of dust, pollen, mold, bacteria, and any airborne particles with a size of 0.3 microns (µm). The diameter specification of 0.3 microns corresponds to the worst case; the most penetrating particle size (MPPS). Particles that are larger or smaller are trapped with even higher efficiency. Using the worst case particle size results in the worst case efficiency rating (i.e. 99.97% or better for all particle sizes).

What Else Can Be Done To Stay Safe From Air Pollution?

Dr Singh suggests that indoor plants could be added, though it could only offer a "small but meaningful improvement in air quality".

One famous NASA experiment, published in 1989, found that indoor plants can scrub the air of cancer-causing volatile organic compounds like formaldehyde and benzene.

These plants are:

• Spider Plant
• Snake Plant
• Peace Lilly
• Aloe Vera
• Boston Fern
• English Ivy
• Rubber Plant
• Golden Photos
• Bamboo Palm
• Dracaena

The doctor also recommends that one should increase their intakes of antioxidant foods. "Increase your antioxidant intake—turmeric, amla, oranges—these won’t fix pollution, but they help your body cope with oxidative stress.”

Antioxidants strengthen the immune system by fighting oxidative stress, which is caused by unstable molecules called reactive oxygen species (ROS). The body's normal processes, like breathing and metabolism, create free radicals (ROS). Antioxidants donate electrons to these unstable molecules, which neutralizes them and stops them from damaging healthy cells.

"Right now, the goal is extremely clear: prevent inhalation of polluted air. Delhi’s current levels are dangerous for the lungs, the heart, and the entire respiratory system," the doctor says.

India is only second in the world to have people with chronic kidney diseases in 2023, said The Lancet study. In 2023, China recorded 152 million patients with chronic kidney disease (CKD), while India was at 138 million.

The study, led by researchers from the Institute for Health Metrics and Evaluation (IHME) at the University of Washington, along with collaborators in the U.S. and the U.K., found that CKD was the ninth-leading cause of death worldwide, claiming nearly 15 lakh lives in 2023.

Regionally, the highest prevalence was reported in North Africa and the Middle East (18% each), followed by South Asia (nearly 16%), and more than 15% in Sub-Saharan Africa, Latin America, and the Caribbean.

In fact, senior director and HOD Nephrology at Medanta Kidney and Urology Institute, Dr Shyam Bansal says, "Chronic kidney disease is one of the fastest-growing chronic illnesses in India, mainly because diabetes and hypertension are becoming more common. Diabetes now affects about 10% of the population and hypertension nearly 25%, and together they remain the leading causes of kidney disease."

The report also highlighted CKD’s strong link to heart disease. It contributed to almost 12% of global cardiovascular deaths in 2023 and ranked as the seventh-leading cause of heart-related mortality, ahead of diabetes and obesity.

The researchers outlined 14 key risk factors for CKD, with diabetes, hypertension, and obesity contributing the most to the loss of healthy life. Dietary habits—such as low intake of fruits and vegetables and high sodium consumption, also played a significant role in raising CKD risk.

“Chronic kidney disease is both a major risk factor for other leading causes of health loss and a significant disease burden in its own right. Yet, it continues to receive far less policy attention than other non-communicable diseases, even as its impact grows fastest in regions already facing the greatest health inequities,” said senior author Theo Vos, professor emeritus at IHME.

The findings draw on data from the Global Burden of Disease (GBD) 2023 study, which tracked trends in diseases, injuries, and health risk factors across 204 countries and territories from 1990 to 2023.

Importance of Early Detection Of Chronic Kidney Disease

Importantly, the authors noted that most people with CKD in 2023 were in the early stages, highlighting the urgent need for strong screening programmes and strategies to reduce risk before the disease advances.

This is why its early diagnosis is utmost important. Dr Bansal on the need for early detection says, "“The biggest challenge is identifying people at risk as early as possible. Early diagnosis and timely control of risk factors are essential if we want to slow the progression of chronic kidney disease."

Early detection could also reduce heart-related deaths due to kidney disease and delay one's requirement for replacement therapies, which is usually sought in advanced stages of the disease.

Dr Bansal also points out that early detection could help one live a better life and also in many ways reduce the burden on the Indian healthcare system, and save cost. "We are dealing with a large population at risk, and kidney disease is complex and costly to treat. While infrastructure and specialist availability are improving, managing this growing burden remains a significant challenge," he says.

A GP has raised concern about a key sign that may show you have Covid rather than a cold or flu. Winter illnesses often look alike, which makes it hard to tell them apart, and getting the right diagnosis is important for proper care. Dr Rupa Parmar, GP and medical director at Midland Health, explained that there are certain clues that can help people understand what they are dealing with. She advised that anyone unsure should check with their doctor, as it is safer to ask than ignore a concern.

Why Breathlessness Matters

Dr Parmar noted that shortness of breath stands out as a sign of Covid. It rarely appears in a cold or flu, but it is common with Covid because the infection tends to affect the lungs and cause inflammation. The NHS also lists breathlessness as a sign linked more strongly with Covid than with flu or a cold. This symptom is also seen in conditions such as respiratory syncytial virus. In some cases, people with the flu who do not recover and worsen may develop breathing trouble if they develop complications such as pneumonia.

How Cough Patterns Differ

She added that coughs appear in all three infections, but they do not sound the same. A cold usually causes a light cough, flu tends to bring a dry one, and Covid usually causes a dry, ongoing cough. Many people with Covid cough for more than an hour or have several episodes of coughing through the day.

Loss Of Taste Or Smell As A Warning Sign

Another clue is a change in taste or smell. Dr Parmar said this sign is more specific to Covid. A sudden loss of taste or smell, or even a noticeable change, is more likely linked to the coronavirus. She explained that the pattern of symptoms often helps point to the right illness. A mild cough and sore throat usually fit a cold, a fever and strong fatigue suggest flu, and a loss of smell or taste with a steady cough point to Covid.

How Symptoms Begin And Progress

She also noted that the start of symptoms can differ. A cold tends to appear slowly, flu symptoms usually show up quickly within a few hours, and Covid can begin with mild signs that grow stronger over time. A cold mainly affects the nose and throat, while flu and Covid can cause symptoms across the body.

What To Do If You Have Covid Symptoms

Even though there are no formal self-isolation rules anymore, the NHS advises people to stay home and limit contact with others if they or their children have symptoms and either have a high temperature or feel too unwell to manage daily activities at work, school, or home. The NHS states that people can return to their usual routine once they feel well again or no longer have a high temperature.