Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Nijmegen breakage syndrome

Nijmegen breakage syndrome is an autosomal recessive disorder. Mutations in the NBN gene (Nibrin), which encodes the Nibrin protein involved in DNA repair mechanisms, lead to Nijmegen breakage syndrome. Deficiency in DNA repair can result in aberrant cell division and growth, increasing the risk of tumor development (lymphoid tumors). Therapies such as radiation and chemotherapy can cause further DNA damage. Due to the loss of function of the Nibrin protein, proliferation of immune cells is impaired, leading to reduced levels of immunoglobulin and immune deficiency. Recurrent infections affecting the lower and upper respiratory tract, sinopulmonary regions, urinary tract, skin, and gastrointestinal system are common.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

BibTeX EndNote Mendeley Zotero