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.

Dehydration is a serious concern for people fasting during the month-long Ramadan period, and can severely impact kidney and prostate health. Experts suggested that avoiding excess salt and caffeine can help.

While Ramadan fasting is generally safe for people with early-stage chronic kidney disease (CKD), maintaining adequate hydration between iftar and sehri -- the two important meals each day for faithful observing the fasting -- is of significant importance.

Dehydration can lead to acute kidney injury and electrolyte imbalances for individuals with advanced CKD. As prolonged fasting hours -- more than 12 hours a day -- urine becomes concentrated, increasing the risk for kidney stones and Urinary Tract infections (UTIs).

For men with prostate problems, fasting during Ramadan can pose challenges, such as Benign Prostatic Hyperplasia (BPH) or an enlarged prostate, primarily due to dehydration.

“As a practicing urologist and kidney transplant surgeon in India, I often notice a rise in kidney stone pain and urinary infections during Ramzan. When patients fast for long hours -- especially in our warm climate -- urine becomes highly concentrated. That increases the risk of stones and UTIs. Men with prostate enlargement sometimes report worsening urinary flow because they consciously reduce fluid intake,” Dr. Pankaj Panwar, Additional Director, Urology, Fortis Escorts Okhla, New Delhi, told HealthandMe.

The doctor advised people “to hydrate strategically between Iftar and Sehri, avoid excess salt and caffeine”.

How Excess Salt And Caffeine Impact Ramadan Fasting

Consuming high-sodium foods such as processed meats, pickles, salty snacks, and fast food during iftar or sehri can increase thirst and dehydration.

High salt intake forces the body to pull water from cells to dilute the sodium, leading to severe thirst. It can also lead to bloating.

Similarly, caffeine in coffee, tea, chocolate, and energy drinks can be diuretic and cause the body to lose fluids and salts through increased urination. Particularly, drinking coffee or tea at sehri -- the pre-dawn meal -- can lead to faster dehydration during the day.

Caffeine consumption, especially late in the evening, can also interfere with sleep, making it harder to wake up for sehri.

“Ramzan is a sacred month of fasting, but prolonged abstinence from water, especially in hot climates, can increase dehydration risk. Concentrated urine puts stress on the kidneys and may worsen kidney stones or trigger urinary tract infections,” Dr. Mangesh Patil, Urologist at Saifee Hospital, Mumbai, told HealthandMe.

Dehydration during Ramadan fasting can lead to symptoms like headaches, extreme thirst, fatigue, and dizziness. But in case of severe dizziness, fever, confusion, or blurred vision, the experts warned of immediate medical help.

“Do not ignore warning signs like flank pain, fever, or difficulty passing urine. A little planning can prevent an emergency hospital visit,” Panwar said.

Patil said warning signs include severe flank pain, burning urination, fever, vomiting, blood in urine, or reduced urine output. Men with Benign Prostatic Hyperplasia may notice worsening urinary symptoms.

Tips To Prevent Complications

• Drink 2-3 liters of water between iftar and sehri
• Include water-rich fruits
• Avoid excess salt and caffeine
• Individuals with kidney disease, stones, UTIs, or prostate issues should consult their doctor before fasting.

Colon (colorectal) cancer begins when small growths called polyps form on the inner lining of the colon or rectum. Over time, changes in the DNA of these cells can cause the polyps to become cancerous.

As abnormal cells multiply, they replace healthy cells and eventually form a mass known as a tumor. This process develops slowly, often taking up to ten years for a precancerous polyp to turn into cancer and begin showing symptoms.

Colon cancer poses serious health risks because cancerous cells can invade healthy tissues. Over time, they may break away and spread to other parts of the body, making detection more difficult since the symptoms can resemble other conditions.

What Is the First Sign of Colon Cancer You Shouldn’t Ignore?

Colon cancer can be difficult to detect because it often develops without obvious symptoms. However, doctors emphasize that the number one warning sign is rectal bleeding or blood in your stool.

"Colon cancer can be hard to diagnose because it can develop asymptomatically,” said Dr. John Nathanson, a gastroenterologist at New York-Presbyterian Allen Hospital.

Dr. Pratima Dibba adds that this symptom should not be misdiagnosed as hemorrhoids, infection, or constipation, since early signs of colon cancer can look similar.

She urges patients to get checked promptly to rule out serious conditions.

Research from the Cleveland Clinic also shows that blood in stool can originate anywhere in the gastrointestinal tract, including the colon.

Detecting colon cancer early is critical, as survival rates can be as high as 90 percent when caught in its initial stages.

What Are Other Symptoms Of Colon Cancer?

Persistent changes in bowel habits (diarrhea, constipation, or narrowing of stool). Other signs include:

• Abdominal (belly) pain
• Bloated stomach
• Constipation or diarrhea
• Feeling like there’s still poop in your bowel even after you go to the bathroom
• Feeling tired or weak
• Unexplained weight loss

Present Day Scenario In India

Colorectal cancer (CRC) is a major health concern worldwide. In India, it is the fourth most common cancer among both men and women. In 2022, there were 64,863 new cases and 38,367 deaths.

Projections suggest that incidence will continue to rise by 2026, reflecting both lifestyle changes and improved detection.

Compared to developed countries, survival rates in India remain lower, largely due to late-stage diagnosis and limited access to screening programs.

The American Cancer Society notes that colorectal cancer is a cancer that starts in the colon or the rectum. Colorectal cancer impacts around 1.9 million people every year, noted the World Health Organization (WHO) as per its 2022 data.

Some of the risk factors include risk factors involve being over the age 50, family history, certain genetic syndromes (like Lynch syndrome), inflammatory bowel diseases, and lifestyle factors (diet high in red meat, alcohol, smoking, inactivity).

The most effective way to prevent colorectal cancer is through annual colonoscopies, screening and stool tests.

Ever wondered how your body generates antibodies in the face of a virus attack? A new study by French researchers showed that our age, biological sex, and human genetic factors can determine our immunity levels.

The human body, when exposed to a virus, defends itself by producing molecules called antibodies. Their main function is to identify pathogens and kill them.

Scientists from the Institut Pasteur, the CNRS, and the Collège de France noted that these factors not only boost the quantity of antibodies produced in the body but also determine the specific viral regions to target.

The February 2026 study, published in the journal Nature Immunology, can pave the way for the development of personalized treatments, especially for individuals who are most vulnerable to infection.

"This study provides a detailed, integrated view of how age, sex, and human genetics shape the antibody response," said Lluis Quintana-Murci, Head of the Human Evolutionary Genetics laboratory at the Institut Pasteur.

"It shows that these factors even determine which specific regions of a given virus are targeted by antibodies, with important implications for vaccine and therapeutic design," Quintana-Murci added.

How Age And Sex Influence Immunity

The findings revealed that individuals produce antibodies that target different parts of the virus when attacked by the same virus. Age was identified as the dominant factor influencing antibody production. The team noted that more than half of the antibody repertoire varies depending on age.

Further, some antibodies were found to increase with age, while others decreased. This was seen particularly in the case of influenza H1N1 and H3N2 viruses.

In young adults, the antibodies mainly targeted a part of the viral surface protein known as hemagglutinin (HA), which evolves rapidly. In older individuals, it focused on a more stable region of the same protein known as the stalk domain.

Women were also found to produce more antibodies against HA. On the other hand, men tended to target other viral proteins (NP and M1), despite comparable vaccination rates between the two sexes.

How Human Genetics Shape Antibody Production

The team identified mutations in genomic regions known to encode the immunoglobulin repertoire. These variants determine which genes are used to produce antibodies.

Using an African cohort, the study revealed population disparities in terms of the molecular targets of their antibody repertoires.

In the case of Epstein-Barr virus (EBV), antibodies were found to recognize different viral proteins depending on the geographical and epidemiological context.

This difference can be explained by the level of exposure -- Africans are more exposed to a particular strain of EBV in which the protein EBNA-4 is the primary antibody target.

How Was The Study Conducted?

The research is based on data from the Milieu Intérieur cohort, launched 15 years ago to study variations in the immune response in 1,000 healthy individuals.

Using an innovative sequencing technology, the scientists analyzed blood plasma samples to measure antibody responses against more than 90,000 fragments of viral proteins, covering a large number of viruses responsible for infections such as influenza, respiratory infections, gastroenteritis, and herpesvirus infections.