In Moscow, for the first time in the country, a bone marrow transplant was performed on a 4-year-old boy not with a blood disease, as is usually done, but with a very rare metabolic disease.
One patient per half a million people
The operation was performed in the department of bone marrow transplantation of the Russian Children’s Clinical Hospital of the Russian National Research Medical University. N. I. Pirogov of the Ministry of Health of Russia (RDCH).
“The child had alpha-mannosidosis,” says Elena Machneva, Candidate of Medical Sciences, Hematologist, Department of Bone Marrow Transplantation, RCCH. — This is an orphan disease, one of the rarest types of storage diseases. It manifests itself in the body’s inability to produce a specific enzyme, which leads to excessive accumulation and deposition of a certain polysaccharide in tissues and organs, disrupting their function.
According to international statistics, the disease occurs in about one child out of half a million born. According to the Medical Genetic Research Center. academician N. P. Bochkov, for 30 years in Russia there were about 50 such patients. In European countries, their number is approaching 60.
Mom diagnosed child with illness
Only in severe forms, the diagnosis is determined in early childhood, as the symptoms begin to appear as the disease progresses, associated with the accumulation of mannose sugar in the body. Chemically, it is close to glucose, but does not take such an active part in metabolism and is poorly destroyed in humans. This is provided by the enzyme alpha-mannosidase, which works in cellular lysosomes. That was what the sick child lacked.
His mother was the first to suspect the illness. She noticed that the child’s appearance began to change and the head increased. After consultation with a geneticist and research, the boy was diagnosed with a rare diagnosis of alpha-mannosidosis and was sent from Tyumen to Moscow for further treatment, to the Department of Medical Genetics of the RCCH.
Even in mild forms, when the disease develops more slowly and the diagnosis is made later (usually after 10 years of age), over time the disease leads to disability. By the age of 50, if patients survive to this age, they all require outside care and are forced to use a wheelchair.
Happy coincidence
The best results of therapy were obtained by bone marrow transplantation, although there were not very many such cases in the world. At first glance, this seems strange, because the disease is not directly related to blood. But the fact is that donor cells that produce the necessary enzyme can inhabit different tissues of the host (patient) and therefore work not only in blood cells.
The decision was made to have the child operated on. “When the treatment plan was finally approved, encouraging news came,” says Machneva. “According to the results of HLA typing, the bone marrow compatibility of the patient’s sister was 100%. This allowed us to quickly perform transplantation from a related donor after the patient underwent preoperative chemotherapy.”
The child’s recovery was normal, without serious complications. Already on the 19th day after the operation, it became clear that the donor’s bone marrow had fully engrafted. The boy continues to receive immunosuppressive therapy to avoid transplant rejection.
Doctors note that the necessary enzyme began to be produced in sufficient quantities, and the accumulation of harmful sugar in the body stopped. The boy’s mental functions have improved, he continues to grow and develop normally.
Source: aif.ru
