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.

It is a common belief that metabolic dysfunction-associated steatotic liver disease (MASLD)—formerly known as non-alcoholic fatty liver disease (NAFLD)—is primarily associated with diet, sedentary lifestyles, and obesity. However, there are other factors as well that affect this aspect. Post-menopausal women experience a significantly higher incidence and faster progression of fatty liver disease, even when maintaining a stable body weight.

In Pre-menopausal women, estrogen plays a central role in metabolism by promoting healthy fat accumulation in subcutaneous tissue (below the skin) rather than around internal organs; it also increases insulin sensitivity and suppresses liver inflammation.

After menopause, when estrogen levels drop, this protective function is lost; there is redistribution of fat leading to more fat accumulation around internal organs, including the liver, thus leading to increased chances of NAFLD and also increasing insulin resistance. Needless to say, with age, our metabolic rate also goes down, which also plays a role in this.

The important part lies not only in understanding the above but in going further in early detection and prevention of menopause associated NAFLD. As we know, fatty liver is a silent disease and often does not cause any signs and symptoms till a very advanced stage.

First and foremost is to change lifestyle with advancing age, changing both the dietary habits and physical activity. Regular screening and monitoring are warranted with blood tests, routine metabolic panels, keeping a tab on weight, sugar, and cholesterol levels, and a basic ultrasound of the abdomen. For someone already diagnosed with second or third stage fatty liver, a simple non-invasive FibroScan can help monitor and assess the response to treatment.

Coming to the treatment part of NAFLD in post-menopausal women, being primarily a lifestyle disease, the core of management also lies in managing lifestyle. Medicines are available for treating and controlling NAFLD in conjunction with lifestyle management. Hormone replacement therapy (HRT), when initiated early in post-menopausal women for symptomatic relief, may offer secondary benefits by maintaining metabolic health. However, HRT should always be initiated after proper evaluation and expert guidance.

NAFLD is a silent epidemic and primarily a lifestyle disease; knowing about it and knowing the triggering and precipitating factors helps with understanding and prevention better. Menopause, being a natural biological phenomenon in every female’s life, makes it essential for us to know how it affects our liver health and overall health as well.

Being aware of personal and family cancer risk may be a critical component in women's knowledge and empowerment to make appropriate screening, prevention and treatment decisions.

Cancer treatment is fast evolving. Doctors are now focusing more on the person than the location or type of cancer and are considering the personal attributes of the patient and the disease. Genetic/genomic testing can complement this and can offer something more that could inform personalised cancer care.

Genetic testing: Knowing your inherited risk

Genetic testing screens for changes in the genes that could be passed down from parents. Some genetic mutations passed down from parents can make a woman more likely to get breast or ovarian cancer.

Having such a genetic change does not mean that a woman will develop cancer. This information will help her and her doctor discuss screening, monitoring and preventive action (if applicable) to reduce her risk.

This information may be useful for family members who could be at risk and should talk to their health care provider about their own risk.

Genomic testing: Understanding the cancer better

There is a difference between genetic testing and genomic testing. Genetic testing is usually performed on blood or saliva to look for inherited changes or genetic predisposition. Genomic testing is usually performed on the tumour or blood to identify its molecular features to enable better understanding of its biology and biomarkers.

Cancer is not one disease and even two patients with the same type of cancer can have different biological characteristics, which can help doctors decide on the treatment and options that may be suitable for an individual patient.

Genomic testing could help to pinpoint features of a tumour that can be used to consider particular targeted treatments or other methods. But not all of them will be suitable or available to all patients based on the results of testing.

Why Awareness About Health Issues Is Important

For women, knowing their family history and discussing any concerns with a doctor can be an important starting point. Genetic or genomic testing should not be done simply because it is available. A specialist may recommend testing based on factors such as family history, age at diagnosis and the type of cancer involved.

It is also important to understand test results correctly. Genetic counselling and discussions with an oncology specialist can help women understand what their results mean and what they do not mean.

Ultimately, genetic and genomic testing is not about predicting the future with certainty. It is about giving patients and doctors more information to make better-informed decisions.

As cancer care moves towards greater personalisation, the freedom to know your risk can become a powerful part of taking control of your health—helping women move from fear and uncertainty towards awareness, informed choices and personalised care.

(Dr. Jyoti Wadhwa, Principal Lead, Medical & Precision Oncology, Apollo Athenaa Women’s Cancer Center)

World Mosquito Day, observed on August 20, raises awareness about mosquito-borne diseases such as dengue, malaria, Zika, yellow fever, and chikungunya and the health risks they pose.

Among these diseases, dengue remains a major public health concern, affecting people across regions worldwide throughout the year.

Dengue Cases: The Latest Numbers

• Global: More than 1.5 million dengue cases and over 500 dengue-related deaths have been reported globally since the beginning of 2026, as of July 31.
• Americas: 1,373,756 cases had been reported as of epidemiological week 26, updated July 23. Of these, 28.9% were laboratory-confirmed, according to WHO PAHO.
• South-East Asia: WHO SEARO bulletins published in June and July reported dengue in Bangladesh, Bhutan, India, Maldives, Myanmar, Nepal, Sri Lanka, Thailand, and Timor-Leste since July 2025.
• India: 22,938 cases had been reported in 2026 as of June. June recorded 6,625 cases, up from 3,747 in May — a 77% increase.

Also read: India’s First Approved Dengue Vaccine: Takeda’s QDENGA Protects Against All Four Virus Serotypes

Why Can Dengue Affect the Kidneys?

Dengue is typically associated with high fever, joint pain, and low platelet counts. However, severe dengue can affect the kidneys and lead to acute kidney injury (AKI).

Speaking to HealthandMe, nephrologists said kidney problems may not always cause symptoms early on, making monitoring particularly important in severe dengue.

Dr. Anupam Roy, Additional Director - Nephrology and Kidney Transplant, Aakash Healthcare Multi-Speciality Hospital, Dwarka, said that recovering from dengue requires careful fluid management, particularly in severe cases.

It is because the kidneys regulate fluids and electrolytes, and changes in circulation caused by dengue can temporarily disrupt their function.

Fever, vomiting, and poor fluid intake can cause dehydration, while severe dengue can cause plasma leakage. Both too little and too much fluid can create problems, making medical supervision important. In hospital, healthcare professionals monitor urine output and signs of dehydration, particularly in patients with complications or underlying health conditions.

After the acute phase, patients should gradually resume eating and drinking according to medical advice. Excessive fluid intake and self-medication should be avoided, particularly when medicines could place additional stress on the kidneys.

“So, it is the quantity issue that must be tackled,” Dr. Roy said.

Signs of Kidney Problems

Read More: Dengue Serotypes Shifting In Young Adults: How India's Indigenous Vaccine Could Help Prevent Severe Disease

According to Dr. Manoj Arora, Consultant Nephrologist, NephroPlus, a network of dialysis centers, warning signs include:

• Decreased urination
• Swelling of the face or legs
• Dark or foamy urine
• Increased blood pressure
• Unusual tiredness
• Nausea
• Breathing problems

Some symptoms can overlap with severe dengue, including continuous vomiting, severe stomach pain, and bleeding.

Who Is at Higher Risk?

Kidney injury is more likely in people with severe dengue or shock. Older people and those with diabetes, hypertension, obesity, or existing kidney problems may also face higher risk.

Seek medical attention for a drastic reduction in urine, new swelling, blood in the urine, worsening breathlessness, confusion, or continuous vomiting.

In hospitalized patients, monitoring is important when creatinine rises, electrolyte levels fluctuate — particularly potassium — or urine output continues to change.

How Can Kidney Damage Be Prevented?

Early recognition and appropriate management are key. Doctors may monitor:

• Fluid balance
• Urine output
• Kidney function
• Electrolyte levels
• Potentially harmful medications

Do not self-medicate or increase fluid intake without medical advice, particularly during severe dengue.

How to Reduce Your Risk of Dengue

Reducing mosquito exposure and preventing mosquito breeding can help lower the risk of dengue.

• Eliminate stagnant water
• Use mosquito repellents
• Use bed nets
• Keep mosquitoes out
• Wear protective clothing
• Check your surroundings regularly.