Doctors of the bone marrow transplantation department of the Russian Children’s Clinical Hospital – a branch of the Russian National Research Medical University named after. N.I. Pirogov of the Russian Ministry of Health – were the first in the world to successfully transplant hematopoietic stem cells into a child with a rare genetic disease, Clericusio syndrome. This freed him from ongoing infections and the death threat associated with an increased risk of blood cancer.
aif.ru told about how the treatment took place Hematologist at the Department of Bone Marrow Transplantation at the Russian Children’s Clinical Hospital, Candidate of Medical Sciences Elena Machneva.
Genetic diseases, fortunately, occur infrequently. But among all such pathologies, there are those that are so rare that most doctors never encounter such a patient in their lifetime. Such a disease includes Clericusio syndrome, a rare genetic pathology belonging to the group of congenital neutropenia.
Why is he so flimsy?
This syndrome was first described in the scientific literature just over 30 years ago. Scientists discovered it in 14 patients from the Navajo tribe. This disease is expressed in atrophic skin abnormalities and changes in blood composition (neutropenia, that is, a reduced number of neutrophils in the blood, which makes bacterial and fungal diseases much more difficult.). But the syndrome not only leads to an increased risk of developing recurrent infections, but also to the development of myelodysplastic syndrome, which increases the likelihood of developing deadly acute leukemia.
A six-year-old boy from the Bryansk region suffered from constant illnesses from birth, which, moreover, were difficult for him and lasted an unusually long time. When the frequency of severe infections became almost constant, the parents decided to carefully examine the child. After examinations at the National Medical Research Center for Pediatric Hematology, Oncology and Immunology named after. Dmitry Rogachev in a small patient and discovered the rare Clericusio syndrome. Over the 3 decades that this disease has been known, only a few hundred cases of this pathology have been described in the world. The child was sent to the bone marrow transplantation department of the Russian Children’s Clinical Hospital, which specializes in providing care to children with orphan diseases.
“First of all, Clericusio syndrome manifests itself in the form of immunodeficiency,” said hematologist Elena Machneva. “At the same time, the body’s antitumor defense is also reduced, resulting in an increased risk of developing leukemia and other malignant neoplasms.”
The syndrome also manifests itself in numerous autoimmune reactions; they occur when the patient’s immune system begins to attack its own healthy cells, perceiving them as foreign. Against the background of this disease, other concomitant pathologies may occur, such as hearing loss and skeletal development abnormalities. A characteristic symptom of Clericusio syndrome is poikiloderma, a skin disease in which variegated spots of dark and white colors appear on the skin (areas of pigmentation and depigmentation).
35 days of anxiety
Getting a diagnosis was very important. But doctors also needed to decide on treatment tactics. And she presented difficulties. Genetic diseases are mostly incurable, but through therapy it is possible to influence the complications that they cause. In this case, the threats were more than serious. “The child was exposed to frequent and severe infectious diseases, and there was also a risk of developing acute myeloid leukemia,” says the expert. “The doctors were clear that the boy needed a bone marrow transplant, but no one had performed this procedure before for Clericusio syndrome.”
But first, of course, it was necessary to find a donor. In his search, the department’s specialists tested relatives for compatibility using the HLA system and found that the boy’s sister was 100% suitable. This was a great success, because otherwise the search for a suitable donor could have taken too long.
For a long time, doctors carefully selected a course of preoperative chemotherapy for the patient, based on the experience of transplantations performed in patients with similar immunodeficiencies. To do this, they repeatedly consulted with colleagues. Preoperative preparation showed a good effect and soon the child underwent bone marrow transplantation. And then for many more weeks, doctors and parents waited, worrying whether the transplant would take root or not. On the 35th day after transplantation, laboratory tests confirmed complete engraftment had taken place.
Death threats averted
For the first time after the procedure, the boy received accompanying immunosuppressive therapy. This is a common practice after a bone marrow transplant – in order for the graft to take root, the immune system must be suppressed. At this time, the patient is especially vulnerable to infections, so any contact is dangerous for him, and communication with the outside world is impossible. But after the transplant takes place, you can live a normal life. Now the little patient and his parents continue to periodically come to the Russian Children’s Clinical Hospital for routine examinations. The specialists are pleased with the result – the donor bone marrow is fully functioning, the patient’s immune system has been completely restored: antitumor and anti-infective immunity is functioning normally, the pathological process in the skin has stopped.
The Bone Marrow Transplantation Department of the Russian Children’s Hospital stood at the origins of this area of medicine in our country. Every year, the department performs about 100 bone marrow transplants per year, and over 30 years, the clinic’s specialists have performed about 2,300 such operations.