THEORETICAL ASPECTS IN THE FORMATION OF
PEDAGOGICAL SCIENCES
International scientific-online conference
175
FEATURES OF THE COURSE OF ALPORT SYNDROME IN CHILDREN
Mukaddasova Malika
Student of the Fergana Medical Institute of Public Health.
Scientific supervisor
Alimova Iroda Anvarovna
Fergana, Uzbekistan.
https://doi.org/10.5281/zenodo.15222619
Relevance:
It has been established that in the last decade the incidence of
Alport syndrome among children has increased, the disease has become more
frequently diagnosed. Alport syndrome is a hereditary disease that affects the
kidneys, hearing and vision organs. It is rare, but can lead to chronic renal failure
and complete hearing loss in childhood. At the same time, timely diagnosis plays
a major role in preventing early severe consequences.
In pediatric practice, a thorough study of this pathology allows for timely
diagnosis and timely observation even before the onset of severe complications,
since early detection improves the patient's condition.
Key words:
Alport syndrome, collagen type IV, hereditary nephritis,
hematuria, chronic renal failure, hearing loss, genetics.
The main cause of Alport syndrome is mutations in the COL4A3, COL4A4 or
COL4A5 genes, which encode type IV collagen chains. This collagen is an
important component of the basement membrane of the kidneys, inner ear and
eyes. Due to the mutation, the collagen structure is disrupted, and the basement
membrane becomes weak. This leads to damage to the glomeruli of the kidneys,
hematuria and later proteinuria develop, the structure of the cochlea in the
inner ear is disrupted, which leads to hearing loss, as well as changes in the lens
and retina of the eyes. Eye symptoms such as anterior lenticonus appear. The
first manifestation of the disease is often microhematuria - the presence of red
blood cells in the urine, more often during a laboratory examination of urine.
With age, proteinuria and signs of impaired renal function appear.
Early diagnostics is often based on the detection of various stigmas of
dysembryogenesis in children (gothic palate, syndactyly, aplasia, renal
hypoplasia, single kidney). The diagnosis is based on examination, genetic tests,
clinical course, urine tests, the presence of hematuria, proteinuria, biochemical
blood tests, which show an increase in creatinine, an increase in urea, and a
decrease in filtration. Audiometry is used to detect hearing loss in a small
patient, and an ophthalmological examination (eye changes) and kidney biopsy
(basement membrane changes) are also required. But the most important
analysis is genetic testing, the most accurate method for detecting mutations in
the type IV collagen genes (COL4A3, COL4A4, COL4A5).
There is currently no specific treatment for Alport syndrome. However,
measures are taken to slow the progression of the disease:
- ACE inhibitors and angiotensin II receptor blockers - to reduce pressure in
the kidneys and reduce protein in the urine;
THEORETICAL ASPECTS IN THE FORMATION OF
PEDAGOGICAL SCIENCES
International scientific-online conference
176
- A diet with reduced salt and protein content (table No. 7 according to
Pevzner);
- Regular monitoring by a nephrologist, ENT doctor and ophthalmologist;
- Hemodialysis and kidney transplantation in the event of renal failure;
- If necessary - hearing aids.
Conclusion:
Alport syndrome is a hereditary pathology that affects the
kidneys, hearing and vision, and diagnostics play a major role. Thanks to modern
diagnostic methods, especially genetic ones, early detection of the disease has
become possible. Although there is no complete cure, proper monitoring and
treatment can slow the development of renal failure and improve the quality of
life of patients.
Literature:
1. Рахманова, Л., Каримджанов, И., Арзикулов, А., & Болтабоева, М.. (2024).
СОВРЕМЕННАЯ ХАРАКТЕРИСТИКА И ФАКТОРЫ, ВЛИЯЮЩИЕ НА СИНДРОМ
АЛЬПОРТА У ДЕТЕЙ (литературный обзор). Международный журнал
научной педиатрии, 3(4), 575–584. https://doi.org/10.56121/2181-2926-
2024-3-4-575-584
2. Ткаченко О.Н. и соавт. «Наследственные нефропатии у детей».
Педиатрия. 2020.
3. Kashtan C.E. "Alport Syndrome: Facts and Opinions." F1000Research. 2017.
4. KDIGO Guidelines for Glomerulonephritis. Kidney Int Suppl. 2021.
5. Savige J. et al. "Management of Alport syndrome in children." Pediatr
Nephrolog. 2020.
6. Ткаченко О.Н., Зубарев Н.В., Морозова Т.Г. "Наследственные нефропатии
у детей" // Педиатрия. — 2020. — №6.
(Подробно о диагностике и наблюдении детей с наследственными
нефропатиями, включая синдром Альпорта)
