Albinism, Cri Du Chat Syndrome, And Reilly Syndrome (CIPA): Features, Genetics, Diagnosis, And Treatment

Аннотация

This article discusses three rare genetic diseases — albinism, Cri du Chat syndrome, and Reilly syndrome (congenital insensitivity to pain with anhidrosis). Their main clinical manifestations, diagnostic methods, features of genetic transmission, and modern approaches to treatment are described. An overview of the impact of these diseases on the quality of life of patients and the prospects for medical care is presented. Keywords: Albinism, Cri du Chat syndrome, Reilly syndrome, congenital diseases, genetics, diagnostics, treatment. Introduction: The study of hereditary diseases such as albinism, Cri du Chat syndrome and Reilly syndrome is of great importance for medicine. These rare pathologies lead to serious disorders in human development and health. Early diagnostics and understanding of genetic mechanisms help to provide timely assistance, improve the quality of life of patients and develop effective methods of treatment and prevention. Theoretical part The term "hereditary diseases" refers to diseases that European International Journal of Multidisciplinary Research 44 https://eipublication.com/index.php/eijmrms and Management Studies European International Journal of Multidisciplinary Research and Management Studies are transmitted to a child from his parents. The cause and physical anomalies. of pathological changes transmitted to the next Reilly syndrome (Reilly-Day syndrome) is a rare generations is a change in the human genetic code. The hereditary disorder belonging to the group of lysosomal human genetic code contains all the information about storage diseases, most often involving disorders of the a person that will accompany him throughout his life. nervous system and metabolism. It may be associated Hidden in its genes are data on the structure of with an autosomal recessive type of inheritance. numerous proteins, from which and with the Modern views participation of which all human organs and tissues are built, as well as biologically active molecules that Today, hereditary diseases are considered to be the regulate such construction. The causes of genetic result of point mutations, chromosomal anomalies are not always precisely clear. rearrangements or metabolic disorders. Thanks to the development of molecular genetics, it has become The first observations on the transmission of diseases possible to accurately identify genetic defects that by inheritance were made in ancient times, but underlie diseases such as albinism (mutations in the hereditary diseases received a scientific basis with the TYR, OCA2 genes), Cri-du-chat syndrome (deletion of a development of genetics. In the 19th century, Gregor chromosome region), and Reilly syndrome (defects in Mendel laid the foundations for the inheritance of metabolic pathways). Research is underway on gene traits. In the 20th century, with the discovery of the therapy, prenatal diagnostics, and gene editing structure of DNA and chromosomal anomalies, it (CRISPR-Cas9), which opens up new prospects for became possible to identify the causes of many genetic treatment and prevention. Albinism is a congenital diseases. Gradually, diseases such as albinism, Cri-du- hereditary disease in which the production of melanin, Chat syndrome and Reilly syndrome were described, the pigment responsible for the color of the skin, hair, which made it possible to improve diagnostics and and eyes, is disrupted. People with albinism have fair begin developing treatment methods. skin, white or light hair, and very light or blue eyes. Basic concepts At birth — characteristic external signs are noticeable. Hereditary diseases are pathologies that arise as a Genetic testing can confirm the type of albinism. result of mutations in genes or chromosomes that are passed from parents to offspring. Ophthalmological examination reveals visual impairments characteristic of albinism (for example, Classification of hereditary diseases nystagmus, photophobia, low vision). By type of mutation: Pros and cons of this "disease" Gene (monogenic): caused by a mutation in one gene Pros: Examples: albinism, Reilly syndrome Albinism is not life-threatening in itself. Chromosomal: caused by a violation of the number or People with albinism are full-fledged individuals with structure of chromosomes normal intelligence. Example: Cri du Chat syndrome (deletion of a region of In some cultures, albinos are considered special. the 5th chromosome) Cons: Multifactorial: depend on both genes and the external environment Increased risk of skin cancer due to sensitivity to the sun. Examples: diabetes, hypertension Visual impairment, sometimes severe. By type of inheritance: Albinism is caused by a mutation in the genes involved Autosomal recessive (e.g. albinism, Reilly syndrome) in the synthesis of melanin. There are several types of Autosomal dominant albinism: Sex-linked (e.g. color blindness) OCA1, OCA2, OCA3 and OCA4 are the most common. Albinism is a genetic disease associated with a violation Tra