"Reading Health for You" Issue 238
Article/Senior Medical Media Man Lin (WeChat public account: Zilin reads health for you)
Experts interviewed: Ding Jie, chief physician of Peking University First Hospital, Liu Yu, chief physician of the otolaryngology head and neck surgery of the First Hospital of Peking University, and Zhao Liang, chief physician of the Ophthalmology Department of the First Hospital of Peking University/Zhang Yinqin, Assistant Researcher at the First Hospital of Peking University
"In the summer of 2015, a 8 -year -old boy went to the First Hospital of Peking University with his mother. Originally, he just wanted to perform a simple penis foreskin cutting surgery, but he found other other urine examination before the surgery.question.
The child has a (+) (+) urine protein, and he hematuria under the mirror.The results of this test attracted the attention of the doctor and asked the child to stay in the hospital for further examination.
But the child’s mother never found out what is wrong with the child. What is the cause of this abnormal test result?Or is it just a false alarm?"
Children should be alert to hematuria that we hematuria that we have never heard
Generally speaking, hematuria and proteinuria are problems with the kidneys, and if the symptoms occur on such a small child, it may be a disease called Alport syndrome.Confused diagnosis.
Through further inspection, the 8 -year -old boy was finally diagnosed with Alport syndrome, but what kind of disease is the Alport syndrome that has never heard of it?What impact will the child’s life cause?
Alport syndrome, what kind of ghost you are?
Professor Ding Jie, the First Hospital of Peking University, has led the team to conduct in -depth research on the Alport syndrome for many years. She said that Alport syndrome, also known as genetic developmental nephritis, is one of the most common genetic kidney diseases.
In 1927, foreign doctor Alport described the disease in detail for the first time. Later, the disease was named after his name.Many patients with Alporta syndrome first appear hematuria and proteinuria, and children of the first two or three years old will appear.
Although this is a type of nephritis, in addition to the manifestation of the kidney (hematuria and proteinuria), the Alport syndrome will also experience hearing decreased and visual decline.Obviously kidney disease, why do you still affect your ears and eyes?
Alport syndrome, hurting the kidneys and ears and hurt your eyes
Liu Yu and the chief physician of the otolaryngus and throat surgery said that because the root cause of the disease is genetic diseases, the genetic mutation of the alpha chain causes abnormalities in type IV collagen.
This type IV collagen is mainly distributed in the base membrane, and is the most distributed in our kidneys, ears, and eyes.Therefore, this disease can change the base cell structure of the ear in the ear and gradually lead to a decrease in hearing.
The decline in hearing is almost synchronized with hematuria and protein, but it is difficult for us to find it, because the decline in hearing is a slow development process, and it will decrease 4-5 decibels a year. It is not like hematuria and proteinuria every timeCan be detected.It must be accumulated to a certain extent to find this problem.
In recent years, through a large number of clinical research, Dr. Liu also found that the hearing decline caused by Alport syndrome among the Chinese population has its characteristic performance.Listening decline is often full -frequency and high -frequency problems.Therefore, children who have decreased in medium frequency listening must first consider Alporta syndrome.
Al -Port syndrome can also cause many kinds of eye lesions. The most common is spots vision -like retinal lesions and anterior tapered crystals.
The sample -like lesions are relatively early, and can occur when kidney damage and hearing damage occur, and the anterior tapered crystal generally occurs later.With the increase of age, the chance of eye lesions has become higher and higher.
Change of retinal spots generally does not affect vision, while changes in the front of the front tapered lens will cause visual decline.The anterior cone crystal is a special change in this disease. When the doctor sees the patient’s presence of a tapered crystal, it is necessary to consider that it may be Alporta syndrome.
What does the front conical crystal abnormal mean?Dr. Zhao Liang said that the role of the crystal in the eyes is equivalent to the convex lens, which plays the role of concentration. It looks like a convex lens shape.Child, so this is called the front conical crystal.
After the emergence of the front conical crystal, it will cause the child’s vision to decline, which is manifested as the increase in the number of myopia.At this time, many parents thought it was ordinary myopia. When the current conical crystal was relatively serious, even if wearing glasses, they could not improve their vision before they came to the doctor.
Therefore, once the child of Alport syndrome confirmed, the ophthalmology examination should be performed on a regular basis.When the decline in vision caused by the current conical lens affects the child’s life, surgery must be considered.
Too many Alport syndrome children have taken a detour
Figure: March 19, 2017 The 5th China Alport Syndrome Parent Association was held
Dr. Ding Jie said that everyone had very little understanding of the Alport syndrome. At least one -third of the Alport syndrome children in her clinic took a detour.
Therefore, from 2012, the Pediatrics Department of Peking University Hospital has held the China Alport Syndrome Parents Association for five consecutive years, and has become the most influential Al -Popular Popular Popular Platform in China.The fifth session was successfully held on March 19, 2017.
The study of the pediatric department of Peking University Hospital for Alport syndrome is also the first to carry out in China. Their national 12th Five -Year Project is conducting multi -center research on Al -Port syndrome.
The International Pediatric Kidney Clinical and Popular Symposium will open in Heidelberg. Dr. Ding Jie, as the only speaker in China, was invited to give lectures on Alport syndrome.
At present, Al -Port syndrome cannot be cured, and can only control the process of controlling the disease through drug treatment.With the development of medical technology, some children who have caused renal failure due to Alport syndrome through kidney transplantation, and now they live well. It is important to discover that Alporta syndrome in time to control the condition in time.
Dr. Ding Jie reminds parents that the urine routine should be tested each year, and the first morning urine that gets up in the morning should be found. Most kidney diseases can be found.
If your child has hematuria or hematuria, you must pay attention to finding the cause. When the reason is unknown, it is best to go to a medical institution with strong pediatric power.
Preparatory diagnosis can accurately screen Alport syndrome
Dr. Zhang Yanqin of the Pediatrics also reminds everyone that prenatal diagnosis can also know the fetal condition early through genetic testing.
But this test is not a can do. The prerequisite is that the pregnant woman or other people in the family have done genetic testing and found that the site of genetic mutations can be found.Take amniotic fluid for inspection at the week to 20 weeks.
[Disclaimer] This article is the original manuscript of Zilin, and the expert interviewed by the experts. Reprinting and extracting without authorization!Otherwise, strictly investigate legal responsibility!(Some pictures come from the Internet)