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.

Organ transplantation can offer patients with end-stage organ failure a new opportunity for a longer, healthier, and more independent life. However, transplantation is not the end of treatment—it marks the beginning of a lifelong commitment to maintaining the health and function of the transplanted organ.

Successful long-term outcomes depend on close collaboration between the organ recipient, living donor, transplant team, and family. Regular medical follow-up, adherence to prescribed medications, a healthy lifestyle, and early recognition of warning signs are essential for both recipients and living donors.

Care After Organ Transplantation

1. Strict Adherence to Immunosuppressive Medications

For most solid-organ transplant recipients, lifelong immunosuppressive therapy is required to prevent the immune system from attacking the transplanted organ.

Medications such as tacrolimus, cyclosporine, mycophenolate, corticosteroids, and other immunosuppressive agents may be prescribed depending on the type of transplant and the individual patient's condition.

Recipients should:

• Take medications exactly as prescribed and at the recommended times.

• Never stop or reduce immunosuppressive medication without consulting the transplant team.

• Avoid missing doses.

• Inform their transplant physician before starting any new medication.

Even seemingly minor changes in medication can affect drug levels and may increase the risk of acute or chronic rejection.

Also read: World Organ Donation Day 2026: Too Old Or Too Sick To Donate Organs? Doctors Bust Key Myths

2. Regular Follow-Up and Laboratory Monitoring

Regular follow-up with the transplant team is an essential component of lifelong transplant care.

Depending on the transplanted organ and individual circumstances, monitoring may include:

• Kidney and liver function tests

• Complete blood counts

• Immunosuppressive drug levels

• Blood pressure and blood glucose monitoring

• Urine examination in kidney transplant recipients

• Imaging or other investigations when clinically indicated

These evaluations help detect rejection, infection, medication toxicity, or deterioration in graft function at an early stage, sometimes before symptoms become apparent.

Also read: US HHS Action Against Kentucky Organ Donation Group Raises Questions About Transplant Safety

3. Recognizing Warning Signs

Transplant recipients should promptly contact their transplant team if they develop symptoms such as:

• Unexplained or persistent fever

• Chills or significant weakness

• Reduced urine output, particularly after kidney transplantation

• Swelling or sudden weight gain

• Breathlessness or persistent cough

• Persistent pain over the transplant site

• Persistent vomiting or diarrhoea

• Unexplained changes in blood pressure or blood sugar

Because immunosuppressive medications reduce the body's immune response, infections may develop more easily and may sometimes present with subtle symptoms. Early medical assessment is therefore important.

4. Infection Prevention

Transplant recipients are more susceptible to infections, particularly during periods of intensive immunosuppression.

Important preventive measures include:

• Practising regular hand hygiene

• Avoiding close contact with individuals who have contagious infections

• Following appropriate food-safety precautions

• Drinking safe and hygienic water

• Maintaining good personal hygiene

• Keeping vaccinations up to date as advised by the transplant team

• Seeking medical advice promptly if symptoms of infection develop

Recipients should also follow the specific infection-prevention recommendations provided by their transplant centre.

5. Healthy Nutrition and Lifestyle

A balanced and nutritious diet is an important component of long-term transplant health.

Recipients should aim to:

• Maintain a healthy body weight

• Eat a balanced diet rich in vegetables, fruits, whole grains, and appropriate sources of protein

• Maintain adequate hydration unless fluid restriction has been advised

• Limit excessive salt, sugar, and processed foods

• Exercise regularly according to their medical condition and physician's advice

• Avoid smoking and tobacco products

• Avoid excessive alcohol consumption

Certain foods, supplements, and herbal preparations may interact with immunosuppressive medications. No dietary supplement, herbal preparation, or over-the-counter medication should be started without discussing it with the transplant team.

Also read: AIIMS Performs Second Dual Kidney Transplant Using Organs From 70-Year-Old Donor: How It Can Expand Donor Pool?

Post-Donation Care for Living Organ Donors

Living organ donation is a remarkable act of generosity. However, protecting the donor's long-term health remains the highest priority.

After donation, the donor should remain under appropriate medical supervision and follow the recommendations of the transplant and surgical team.

1. Recovery After Donation

The recovery period varies depending on the type of donation and the individual's overall health.

Donors should:

• Follow wound-care instructions carefully.

• Take prescribed medications as directed.

• Get adequate rest during the initial recovery period.

• Gradually resume physical activity as advised.

• Avoid strenuous exercise and heavy lifting until medically cleared.

• Return to work and normal activities progressively.

The recovery process should be individualized rather than based solely on a fixed timeline.

2. Long-Term Health After Kidney Donation

Most carefully selected kidney donors can lead healthy, active lives with a single functioning kidney.

Long-term health recommendations include:

• Maintaining a healthy body weight

• Exercising regularly

• Eating a balanced diet

• Staying adequately hydrated

• Avoiding tobacco

• Avoiding unnecessary use of potentially kidney-toxic medications, particularly certain painkillers such as NSAIDs

• Monitoring blood pressure

• Periodically checking kidney function and urine as recommended

Living donation should never mean that donors stop looking after their own health. The donor's well-being remains a lifelong priority.

Any new or persistent symptoms should be reported to a healthcare professional.

Also read: India Records 20,138 Organ Transplants In 2025; Deceased Donor Transplants Reach 3,526

3. Emotional and Psychological Well-Being

Transplantation and organ donation can have a significant emotional impact on both recipients and donors.

Recipients may experience anxiety related to rejection, medication, financial concerns, or the uncertainty associated with transplantation. Living donors may also experience emotional changes during the recovery period.

Maintaining open communication with family members and the transplant team can be extremely helpful. If persistent anxiety, depression, sleep disturbances, or emotional distress develops, professional psychological or psychiatric support should be sought.

4. The Importance of Lifelong Follow-Up

The success of organ transplantation depends not only on the surgical procedure but also on long-term post-transplant care.

For recipients, medication adherence, regular monitoring, infection prevention, and a healthy lifestyle are essential to preserving graft function.

For living donors, appropriate postoperative recovery, long-term health monitoring, and healthy lifestyle practices help ensure that they continue to live healthy and fulfilling lives after donation.

The transplant may be a single surgical event—but maintaining the gift of life is a lifelong journey.

With appropriate medical supervision, adherence to treatment, healthy lifestyle choices, and timely attention to warning signs, organ recipients can protect the health of their transplanted organ, while living donors can continue to enjoy a healthy and active life after their selfless contribution.

By Dr. Pragnesh Desai, Senior Director & HOD – Urology, Renal Transplant, Robotics & Uro-Oncology, Yatharth Super Speciality Hospital, Noida Extension

Organ donation is one of the most generous gifts a person can give. Age, diabetes, hypertension or other medical conditions do not automatically rule out organ donation, doctors said on World Organ Donation Day.

Observed on August 13 every year, World Organ Donation Day aims to raise awareness about the need for organ and tissue donation and honour donors and their families.

Organ Donation After Brain Death

Dr. Umesh Gupta, Director and HOD, Nephrology and Kidney Transplant, Aakash Healthcare Multi-Speciality Hospital, Dwarka, told HealthandMe that organ donation can be considered when brain function is permanently lost and cannot be restored.

Brain death occurs when all functions of the brain and brainstem have permanently stopped.

“Brain death is different from a coma or a prolonged unconscious state. In brain death, the person cannot regain consciousness or breathe independently. Mechanical support may continue to keep the heart beating and preserve the condition of organs for a limited period, which is why organ donation can be considered,” he said.

Depending on the donor’s medical condition, organs such as the heart, liver, kidneys, lungs and pancreas may be suitable for transplantation.

Who Can Donate Organs?

Age alone does not rule out organ donation. Eligibility is assessed individually by the transplant team.

Doctors evaluate:

• Health and functioning of individual organs
• Existing illnesses
• Infections
• Medical history
• Other factors that could affect transplant safety

Can People With Diabetes or Hypertension Donate?

People with well-controlled diabetes or hypertension may still be eligible to donate certain organs or tissues, said Dr. Shailesh Chandra Sahay, Senior Director - Urology, Kidney Transplant, Robotic Surgery, Max Super Speciality Hospital, Patparganj.

Modern transplantation practices allow doctors to assess each organ individually rather than excluding a donor solely because of age or a particular diagnosis.

Every potential donor deserves a medical evaluation. An organ that may appear unsuitable to a person could ultimately give another patient a second chance at life.

Blood Group Is Important — But Not the Only Factor

Blood group compatibility is an important consideration in organ transplantation.

“A blood group O donor typically donates to O recipients, while AB recipients can receive organs from all ABO blood groups in many transplant settings,” Dr. Saurabh said.

However, compatibility involves more than blood type. Doctors also assess:

• Tissue compatibility
• Antibodies
• Organ size
• Recipient’s overall health

World Organ Donation Day 2026: Why Donation Matters

• One deceased donor can potentially save up to eight lives through vital organ donation.
• Tissue donation can improve the lives of many more people.
• A record 173,727 solid-organ transplants were performed worldwide in 2024, but demand continues to exceed supply.
• India performed 20,019 organ transplants in 2025, nearly four times the number in 2013.
• As of March 3, 2026, 89,839 patients were on India’s national waiting list for major organs.
• Only around 18% of transplants currently involve deceased-donor organs.
• More than 4.8 lakh Indians have pledged to donate organs and tissues after death since September 2023.

Lung cancer has long been associated with smoking, but this is no longer the complete picture. While tobacco remains the leading cause, an increasing number of people who have never smoked are also being diagnosed with the disease. This changing pattern highlights the need to look beyond smoking alone when considering lung cancer risk.

In non-smokers, lung cancer is often diagnosed later because neither patients nor families may initially suspect the disease. As a result, symptoms are sometimes mistaken for common respiratory illnesses, delaying evaluation and treatment.

Why Non-Smokers Are Also at Risk

While smoking continues to account for most lung cancer cases, several other factors can also contribute. Long-term exposure to second-hand smoke, air pollution, radon gas, asbestos, diesel exhaust, and certain workplace chemicals has been linked to an increased risk. A family history of lung cancer or specific genetic mutations may also make some individuals more susceptible, even if they have never used tobacco.

In urban areas, prolonged exposure to polluted air is becoming an important concern. Fine particulate matter can enter deep into the lungs, causing long-term inflammation and damage that may increase the risk of developing lung disease, including cancer.

Symptoms That Should Not Be Ignored

Early lung cancer may not cause noticeable symptoms. When symptoms do appear, they should not be ignored, particularly if they persist for more than a few weeks. Symptoms that should be evaluated by a doctor include:

• A persistent cough that does not improve

• Coughing up blood

• Chest pain

• Shortness of breath

• Unexplained weight loss

• Repeated chest infections

• Hoarseness of voice

• Persistent fatigue

These symptoms can occur due to several conditions and do not always indicate lung cancer. However, persistent or worsening symptoms should be assessed promptly to identify the underlying cause and begin appropriate treatment if needed.

Why Early Diagnosis Makes a Difference

Finding lung cancer at an early stage improves the chances of successful treatment. Individuals with prolonged exposure to environmental or occupational risk factors, or those with a strong family history of lung cancer, should discuss their risk with a doctor. Imaging tests such as chest CT scans and, when indicated, molecular testing help identify the type of lung cancer and support treatment planning.

Looking Beyond Smoking

Not every case of lung cancer can be prevented, but reducing exposure to tobacco smoke, avoiding harmful occupational exposures, improving indoor air quality where possible, and seeking medical advice for persistent respiratory symptoms can help protect lung health. Greater awareness that lung cancer can affect both smokers and non-smokers may lead to earlier diagnosis, timely treatment, and better outcomes.

(Dr Dipanjan Panda, Senior Consultant, Medical Oncology, Indraprastha Apollo Hospital, Delhi)