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.

While a weakened immune system and fear of complications once denied people with HIV access to organ transplants, doctors at a Delhi hospital have now challenged the idea with a successful kidney transplant surgery on a 43-year-old HIV-positive patient from Ethiopia.

According to the team of doctors from the Max Super Speciality Hospital, Patparganj, who successfully performed the complex living donor kidney transplant, advancements in antiretroviral therapy and transplant protocols have made such procedures increasingly safe in carefully selected cases.

“HIV is no longer a barrier to organ transplantation when managed appropriately,” said Dr. Ravi Kumar Singh, Senior Consultant, Nephrology and Transplant Physician at Max Hospital, Patparganj.

“With strict selection criteria and coordinated multidisciplinary care, patients with well-controlled HIV can achieve outcomes comparable to the general transplant population.”

Also read: India Identifies 219 Districts As Priority For Intensified HIV/AIDS Interventions

Kidney Transplant In HIV Positive Patient

The patient, who had been living with HIV for 10 years, developed end-stage renal disease 3 years ago and has been dependent on regular dialysis since then.

Before the surgery, the patient underwent extensive evaluation to ensure optimal control of HIV, including a stable immune profile and undetectable viral load.

The patient’s 33-year-old wife donated one of her kidneys. Compatibility testing confirmed matching blood groups and a negative cross-match, enabling the team to proceed with the transplant.

“Kidney transplantation in patients with HIV requires a highly meticulous and coordinated approach, given the complexities of balancing immunosuppression with ongoing antiretroviral therapy,” said Dr. Paresh Jain, Senior Director, Urology, Robotic Surgery & Renal Transplant.

“In this case, careful pre-transplant evaluation, precise surgical execution, and close post-operative monitoring were critical to ensuring a successful outcome. This procedure reflects how advances in transplant science and surgical expertise are enabling us to safely expand access to life-saving transplants for patients who were once considered high-risk,” he added.

Following the transplant, the patient has shown encouraging recovery, has been taken off dialysis, and is gradually returning to normal daily activities, the doctors said. The patient also continues on a carefully monitored regimen of immunosuppressive and antiretroviral therapy, they added.

Also read: India's Silent Crisis: Why We Must Embrace Deceased Donor Organ Transplantation

Can People With HIV Get A Transplant?

With advancements in antiretroviral therapy (ART), enabling people to live longer, HIV has now become a chronic, manageable condition. However, the HIV positive patients are now more likely to die from end-stage organ disease than from AIDS-related infections.

As per the US National Institutes of Health, people with HIV can successfully donate or receive transplanted organs with reasonable success rates.

However, health care providers must consider and monitor potential drug interactions, kidney and liver function, and HIV viral suppression in people with HIV receiving a transplant.

Further, the NIH advised HIV positive patients to continue taking all prescribed HIV medicines before and after transplant.

“Smoking is injurious to health.” We see this warning in theatres and on billboards, but for many, it’s become background noise. We tend to think of smoking as a “future threat”, a cough, some breathlessness, or perhaps a scary diagnosis years down the line.

But did you know that the cigarette in your hand is also quietly sabotaging something far more immediate: your hormonal health.

The Gender Gap In The Smoke

While smoking is often viewed through a male lens, the reality is shifting. In fact, approximately, women comprise about 20% of the more than 1 billion smokers globally, and the biological toll they pay is unique.

Usually the impact of smoking is focused more on the lungs and the heart. But one of the most overlooked victims of tobacco is the endocrine system, especially in women.

A Direct Hit To Your Menstrual Cycle

Cigarette smoke is a cocktail of thousands of toxic chemicals, including tar, nicotine, carbon monoxide, and poisonous metals. These don't just stay in the lungs; they hijack the hypothalamic–pituitary–ovarian (HPO) axis, which is the delicate "command center" that regulates your period.

Nicotine triggers a surge in stress hormones like cortisol and catecholamines. When these are chronically elevated, they disrupt the steady, rhythmic release of hormones that tell your body when to ovulate. The result?

• Irregular or Shorter Cycles: Your body’s natural rhythm is thrown off-beat.
• Painful Periods (Dysmenorrhea): Nicotine narrows your blood vessels (vasoconstriction), reducing blood flow to the uterus and making cramps significantly more intense.

The Effect of Smoking On Estrogen

Estrogen is the powerhouse hormone responsible for regulating the menstrual cycle, maintaining bone density, protecting heart health, and much more.

Smoking acts as an "anti-estrogen." By draining your estrogen, smoking can trigger early menopause, often by one to two years, and increase your long-term risk of osteoporosis.

For those trying to conceive, the toxins reduce your "ovarian reserve" by 20% (your egg count), making the journey to motherhood much harder.

The Road To Recovery: Recalibrating Your System

But the good news? Our bodies are remarkably resilient. Within weeks of quitting, your circulation improves, stress hormones stabilize, and your endocrine system begins to regain its equilibrium.

Many patients report more predictable cycles and less painful periods after quitting smoking.

Don't Rely On Willpower Alone

Quitting is a medical challenge, not just a test of character. If you’re overwhelmed, connect with your doctor on using the many tools available that can help you in quitting, such as:

• Nicotine Replacement Therapy (NRT): Gums, patches, and lozenges provide controlled nicotine without the toxic smoke. Unlike smoking, which delivers nicotine in rapid spikes along with thousands of harmful substances, NRT helps reduce cravings and supports quitting with far less harm.

• Prescription Support: Medications reduce the "reward" your brain gets from nicotine.

• Behavioral Support: Counselling significantly increases your chances of staying smoke-free for good.

Your hormones work tirelessly every single month to keep your body in harmony. Every cigarette disrupts that dance; every "no" helps restore it.

Your body’s natural rhythm is worth protecting. Perhaps today is the day you finally return the favor.

Dhurandhar 2 actor Mustafa Ahmed, who played Rizwan in the film, opened up about growing up with dyslexia. He shared that he struggled with reading and writing, but sports and dancing came naturally to him.

"I was not a bright kid. I was dyslexic and came from an Afghan background. But I was always physical, I was good at sports, and I picked up dancing naturally. Anything that involved using my body, I was good at it,” said Mustafa, who trained has Hrithik Roshan, in the Alpha Coach podcast.

What Is Dyslexia?

Dyslexia is a learning difficulty that affects reading, writing, and spelling. However, it has nothing to do with intelligence.

Common signs of dyslexia include:

• Difficulty reading or recognizing words
• Trouble with spelling and writing
• Confusing similar-looking letters (like b/d or p/q)
• Slow reading speed and poor comprehension
• Difficulty following written instructions

This means that children with dyslexia are simply wired differently and may need to focus on other learning areas.

How Did Mustafa Overcome Dyslexia?

Mustafa did exactly that. He focused on training hard and eventually worked with big stars like Hrithik Roshan. That’s when he caught the attention of Aditya Dhar, the maker of Dhurandhar. Aditya saw potential in him and encouraged him to pursue acting, helping launch his journey in the industry.

Growing up, Mustafa, who revealed in an interview, faced challenges in school due to his learning difficulties. Tasks like reading scripts or memorizing lines may not have come easily at first. However, with determination, support, and self-belief, he was able to overcome these barriers.

However, today as a rising star, his story is a reminder that with the right support, early diagnosis, and self-belief, children with dyslexia can truly thrive.

Signs and symptoms of dyslexia

Doctors say signs of dyslexia can look different at each age. It happens because your brain grows and learns in new ways as you get older. You may notice your child has:

• Has difficulty learning or recognizing letters
• Has trouble rhyming words
• Mixes up words that sound similar
• Find it difficult to read simple words after learning letter sounds
• Have trouble remembering letters, even after lots of practice
• Avoiding tasks that have to do with reading
• Feeling sick or anxious before school or homework time
• Struggling in school

Can You Treat Dyslexia?

Doctors say even though dyslexia is a lifelong condition, it can be effectively managed with the help of interventions like:

• Phonics-based reading programs
• One-on-one tutoring
• Speech and language therapy
• Use of assistive technology like audiobooks and text-to-speech tools

With these strategies, individuals with dyslexia can improve their reading skills and excel in their chosen fields.