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“With treatment, they can live long and full lives thanks to advances in organ replacement therapy (dialysis) and kidney transplantation,” says prof. I. Skarupskienė.
The most common genetic causes.
Rare kidney diseases usually present with different and nonspecific symptoms and can damage all kidney structures: blood vessels, blood cells, tubules.
According to the head of the Nephrology Sector of the Childhood Diseases Clinic of the Kaunas Clinics and the Center for Rare and Chronic Childhood Kidney Diseases, a teaching nephrologist. Jūratė Masalskienė, due to these injuries, cysts may form in the kidneys of children, a vascular wall or chronic inflammation of the kidney balls may occur, which eventually becomes the cause of death of the kidney balls and tubules, the development of chronic kidney failure. .
“Rare kidney disease can lead to poor growth and development in children, high blood pressure, changes in urine and kidney images in adults, and often impaired kidney function,” says the associate professor.
These diseases can be caused by a variety of causes, but are generally genetic in origin.
“They can be caused by mutations in various genes, metabolic disorders,” says Prof. I. Skarupskienė. “Rare kidney diseases can sometimes be autoimmune in origin, when cells of the immune system produce antibodies that break down a variety of human cells.”
The objective is to save the kidneys of the daughter.
Rare diseases are often chronic and affect more than one body system, so close cooperation between doctors of various specializations is essential to ensure the care of rare disease patients.
Nine-year-old Dite, a patient at the Kaunas Clinics, was diagnosed with a rare neurosurgical disease: meningomyelocele (spinal hernia). Due to the complexity and complexity of the disease, it is constantly monitored by neurologists, urologists, nephrologists, orthopedic traumatologists and ophthalmologists from the Kaunas clinics.
“As soon as our daughter was born, neurosurgeons from the Kaunas clinics operated on her and a few days later she was diagnosed with a urinary tract infection,” recalls the girl’s mother, Giedrė.
Due to a congenital hernia, this infection recurs constantly in Ditei. Doc. J. Masalskienė realizes that a rare disease suffered by a girl damages the spinal cord, therefore, the function of the bladder, defecation, is impaired, she cannot walk.
“Because urine does not leak out of the bladder, it needs to be drained through a catheter. Recurrent urinary tract infections damage the kidneys, so the patient needs the constant supervision of a pediatric nephrologist ”, explains the doc. J. Masalskiene.
Dit’s mother makes no secret that her main goal is to keep her daughter’s kidneys healthy.
“The first year of life was difficult, she was constantly tormented by recurrent infections. Now she undergoes urinary catheterization 5 times a day, so infections occur less often and the girl feels much better, – opens Giedrė.” We are happy that with the help of various specialists from the Kaunas clinics, our daughter can live a normal life and attend school. “
Lifelong disease
At present, in the Kaunas clinics, the most advanced treatment method is applied to patients with rare kidney diseases to stop the progression of the disease: replacement kidney therapy and, in the early stages of the disease, medical treatment. According to Professor Skarupskienė, this treatment helps prevent late-stage kidney disease, but is not used in all rare kidney diseases.
“Medication options depend on the cause and nature of a rare kidney disease,” explains the director of the Center for Rare Kidney Diseases. “Patients treated at the Kaunas clinics have the opportunity to prescribe a globally approved medical treatment for the rare kidney damage in Fabry disease, tuberous sclerosis, atypical hemolytic uremic syndrome, vasculitis, chronic inflammation of the kidney balls “.
Doc J. Masalskienė adds that rare kidney disease is a lifelong disease and, although they are most often diagnosed in childhood, they occur throughout life, so the cooperation of children’s physicians and adult patients is highly important.
“The experience and concerted efforts of the specialists at Kaunas Clinics enable us to successfully help patients with complex rare kidney diseases, as well as directly and seamlessly transfer the medical care of adult children with rare diseases to specialists in adult diseases.” says the Kaunas nephrologist. Clinics “Our goal is to help all patients with rare kidney disease learn to live a full life with it.”
Rare diseases include those that do not affect more than 1 in 2000 people. Rare diseases are detected in about 6 percent. About 30 million citizens of the European Union. In the European Union and around 200 thousand Lithuanians. 8 out of 10 of these diseases have a genetic basis and each of us is a carrier of 6 to 8 inherited diseases.
Kaunas Clinics has 25 Centers of Competence in Rare Diseases, which provide multidisciplinary health care services to patients with different rare diseases, and the activities of these centers are combined by the Center for Coordination of Rare and Undiagnosed Diseases.
At the end of April, Kaunas Clinics hosted a remote practice and scientific conference “Rare diseases of children and adults: the importance of cooperation” organized by Kaunas Clinics of Nephrology, Department of Pediatrics, Lithuania University of Health Sciences and Lithuanian Nephrology, Dialysis and Transplant Association (LNDTA). Rare kidney diseases, their diagnosis and the latest treatment options were discussed during the conference.
