Qilu Evening News · Qilu Yitian reporter Han Hongli
There is such a child clinically that there is no obvious cause of hematuria. As age increases or continues hematuria, proteinuria occurs, proteinuria is aggravated, and even renal failure occurs.Symptoms such as sexual deafness.
When you encounter such a child, you must consider a rare disease-Alport syndrome.
When it comes to Alport syndrome, what kind of disease is it?
"Alport syndrome is also known as hereditary developmental nephritis, hereditary nephritis, genetic chronic compact nephritis, and hereditary chronic nephritis." Said Zhang Hongxia, director of the Department of Kidney Rheumatology of Children’s Hospital Affiliated to Shandong University.
This is a hereditary disease, which is mainly manifested in hematuria, neurochidism, eye disease and chronic renal insufficiency.
Why is this a hereditary disease?It is reported that the Alport syndrome is caused by the COL4A3, COL4A4 or COL4A5 gene mutations encoding the glomerular base -type collagen α3, α4 or α5 chain.About 85%of the patients with Alport syndrome are the X chain explicit genetic Alport syndrome caused by the COL4A5 gene mutation. Among them, male patients have a severe condition.Light.About 15%of the patients with Alporta syndrome are Alport syndrome caused by aldin genetic types caused by the algorithm of the Alport, which is caused by the algorithm of Alport syndrome.
What symptoms of children should consider this disease?
Alport syndrome is essentially a hereditary, kidney disease -based clinical syndrome. Therefore, in clinical practice, it should pay attention to the characteristics of kidney abnormalities. Zhang Hongxia also reminds parents to pay attention to the performance of "extraversion".
1. Kidney manifestations are the most common in hematuria.Hematuria (deformed red blood cell hematuria) is highlighting and launching, intermittent or persistent naked eye or under -mirror hematuria, and mostly increased in the upper respiratory tract infection, tiredness or pregnancy.The renal function is chronic for sexual damage. Men are particularly prominent, often entering the end-end renal failure at the age of 20-30.
2. Hearing impairment.It is often accompanied by high -frequency nerve deafness, deafness is performed, and the two sides are incomplete. At first, the hearing of the high -frequency zone decreased, and the full sound range and even affecting daily dialogue exchanges.There is no report of congenital deafness.The X chain explicitly genetic Alport syndrome is higher than women, and the age of occurrence is earlier than women.
3. Eye lesions.10%-20%of patients include eye lesions, including myopia, strabismus, eye tremor, tiner cornea, corneal pigmentation, spherical crystals, cataracts, and underground lesions.
4. Persistent smooth fibroids.Some youth -type Alport syndrome family or patients are accompanied by significant smooth muscle hypertrophy, and corresponding symptoms, such as swallowing difficulties, dyspnea, etc.Alporta syndrome is accompanied by diffuse smooth fibroids, all of which are X chain explicit genetic types, but women of hybrids have already performed smooth muscle hypertrophy, and the specific mechanism of this phenomenon is not clear.
"The phenotype of patients with Alport syndrome is diverse, and genetic screening is still the gold standard for diagnosis of the disease." Zhang Hongxia said.
Is there a way to treat this disease?
Zhang Hongxia suggested that patients with Al -syndrome should eat a healthy diet to avoid the application of drugs that damage kidney function. After the end of the end -stage renal disease, kidney replacement therapy (peritoneal dialysis or hemodialysis) should be used.Hypertrophy of thyroid gland.Patients with a decrease in hearing are recommended to wear hearing aids to improve hearing.Patients with cataracts can be treated with surgical treatment. Patients with keratin lesions can apply drug -to -treatment symptomatic treatment and improve symptoms.
At present, research shows that reducing proteinuria, anti -kidney fibrosis and other treatment can delay the speed of the progress of the Alport syndrome disease, thereby delaying the emergence of renal failure.Angiotnsin-Converting Enzyme Inhibitor (ACEI) and vascular tension receptor blockers (ARB) can effectively reduce Alport comprehensive proteinuria, slow down advance to renal failure, and slow down to renal failure. Outspeed.
How to prevent it?
"First of all, the genetic consultation of family members uses corresponding testing technology to determine the cause of gene mutation, clarify the risk assessment of genetic methods and family carriers, and then conduct the risk assessment of fetal genetic diseases, so as to choose the appropriate pregnancy method and prenatal diagnosis method."Zhang Hongxia said.
For high -risk populations, such as patients with a couple, or children who have had Alport syndrome, or carriers of Alport syndrome.High -risk people need to do a genetic examination of fluff or amniotic fluid during pregnancy to perform eugenics.
Through early diagnosis and intervention after birth, timely and effective targeted observation and treatment measures are adopted to slow down the pathological progress of kidney, avoid worsening the disease, and keep patients healthy.