Ears turn blue, eyes turn brown, cheeks turn blue, it turns out this is the rare "black urine disease"

After dinner, Dr. Zhang started his daily “mobile phone browsing” time. Although he called it “mobile phone browsing”, in fact, most of what he browsed was medical related. There is no way around it, now all platforms are focused on algorithms. To put it bluntly, they have already thoroughly studied your career, hobbies, etc.

Seeing that most of the screen was filled with medical-related content, he had no choice but to go with the flow and click on the content that interested him.

Suddenly, an article with only a few words caught his attention. The title clearly read "black urine disease".

With his professional sensitivity, he immediately felt that this disease was unusual. Looking at the three words "rare disease" in the title, the author was indeed not exaggerating. So he poked his finger and clicked on the article.

The article said that the patient was an elderly woman who had gradually become disabled in her legs and feet over the past few years. The pain in her knee and hip joints severely limited her movements.

At first glance at this disease description, many people may say: As people age, it is normal to have difficulty walking. For example, rheumatism, lumbar disc herniation, etc. can cause back and leg pain and difficulty walking.

However, it is not that simple. The patient's film surprised everyone. The film showed that the patient had thoracolumbar kyphosis, stenosis of the intervertebral space, diffuse calcification of the intervertebral disc, high-density shadows around the cartilage endplate, and bone hyperplasia at the edge of the vertebral body. In addition, arthritis changes were found in multiple bone joints including bilateral hip joints, sacroiliac joints, pubic symphysis, and knee joints.

After leaving the urine for 24 hours, the answer was revealed when it turned into soy sauce color - this was a disease called black urine.

After searching the data, it was found that "black urine" was named after the patient's black urine. The first person to study "black urine" was the British medical biochemist Garrod. Garrod noticed that in patients with "black urine", a series of chemical reactions were blocked somewhere, and homogentisic acid could not be converted into other substances along the normal metabolic pathway and excreted from the body, making the urine appear black; the reason for the blockage was the lack of homogentisic acid oxidase.

Later, after in-depth research, it was finally revealed that this disease is a hereditary disease. Because it is an autosomal recessive inheritance, people who carry this gene are not 100% likely to develop the disease, and direct relatives are not necessarily 100% likely to develop the disease. However, if close relatives marry, the incidence rate will increase greatly.

The harm of this disease is that the accumulated homogentisic acid in the body is oxidized and decomposed, and its products can irreversibly combine with connective tissue to form polymers, which leads to different degrees of pigmentation in the tissue. After the tissue is stained, it is fragile and may even rupture, which can cause damage to the intervertebral disc, articular cartilage, tendons and ligaments. Long-term deposition in bone tissue can cause spinal and joint diseases.

Everyone may be very concerned about one thing: How to detect this disease?

In the early stage, the disease has almost no obvious clinical manifestations, and routine examinations will not detect it. However, if the patient's urine turns black after standing, it is highly suspected that it is this disease. It is generally believed that the disease is often hidden in adolescence.

As people age, this disease will no longer be stable, and patients will often show light blue ears and yellow-brown sclera. Therefore, you must pay attention to whether there are people around you who look like this, and remind them to undergo special examinations in time.

Once again, doctors are not omnipotent! The key to treating diseases is to prevent them and detect and treat them early. Once the situation becomes very serious, as mentioned in the beginning, the bones and joints are so severely deformed, which doctor can save them? At best, they can stop the disease from progressing and relieve the symptoms.

As mentioned above, the most severe stage of the disease is odontogenic arthritis. At this stage, the bones and joints are destroyed in large quantities. The severe pain will seriously reduce the quality of life.

After learning about this disease, I would like to remind everyone again: You must firmly resist close relatives marrying and having children. Because from a genetic point of view, carrying a recessive disease gene is only a low-probability event. Once two people carry the disease gene, the incidence rate will increase exponentially!

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