Newborn children have been diagnosed with a rare genetic disease, in order to prevent the disease on the nervous system damage, hematopoietic stem cell transplantation is urgent. At the critical time, a copy of cord blood from the Guangdong Cord Blood Bank became the first choice for transplantation. On April 28, Yuanyuan (pseudonym), a half-year-old baby girl with Crabber's disease, completed a umbilical cord blood hematopoietic stem cell transplant at Sun Yat-sen Memorial Hospital of Sun Yat-sen University and after more than a month of observation, the overall recovery was good and she was successfully discharged from the hospital.
It is understood that this is the first case of cord blood from the Guangdong Cord Blood Bank used to treat Crabber disease, and it is also the first case of Crabber disease treatment in Sun Yat-sen Memorial Hospital of Sun Yat-sen University.
The picture shows the cord blood from the Guangdong Provincial Cord Blood Bank to the hospital
Children of healthy couples unexpectedly suffer from rare diseases
Yuanyuan was born in October 2021, and the family attaches great importance to the health protection related to their daughter. The couple decided to do genetic screening for their daughter's newborn, and it was this decision that accidentally discovered a rare disease hidden in the child— Crabber's disease, which was slowly eating into the child's nervous system.
"We are both healthy and didn't expect it at all!" When he learned of the genetic abnormality, Yuanyuan's father was confused. But the couple did not hesitate, and in order to further confirm the diagnosis, the whole family went through genetic screening again. It was found that because the chromosomes of the husband and wife each carried a recessive disease-causing gene, and these two genes were inherited to the child, the disease was caused.
The diagnosis of Craber's disease made Yuanyuan's parents physically and mentally exhausted, but they had to face this cruel fact, Hao Hu, director of the Department of Pediatrics of the Sixth Affiliated Hospital of Sun Yat-sen University, conducted a diagnosis and genetic consultation of the disease, informing the family that the child had a high risk of neurological abnormalities when he grew up, and that early hematopoietic stem cell transplantation was the best treatment method at this stage and recommended to go to the Pediatric Department of Sun Yat-sen Memorial Hospital of Sun Yat-sen University for comprehensive assessment and detailed examination.
Compete with the disease for time cord blood into the transplant of choice
Klaber disease, also known as spherical cell leukodystrophy, is an autosomal recessive inherited metabolic disease.
According to Director Hao Hu, the incidence of the disease in the Guangdong population is only 1/100,000, the case of the child belongs to the homozygous mutation, the mutation is from both parents, the same mutation site patients in China reported as the onset of the disease in adolescence and adulthood, mainly manifested as multiple systemic convulsions, cognitive impairment, sensory nerve conduction abnormalities, mild depression, magnetic resonance for mild brain atrophy, especially frontal lobe atrophy, Japan also has the same mutation site patients reported.
Professor Huang Ke, Director of pediatric hematopoietic stem cell transplantation at Sun Yat-sen Memorial Hospital of Sun Yat-sen University
Professor Huang Ke, director of the Pediatric Hematopoietic Stem Cell Transplantation Department of Sun Yat-sen Memorial Hospital of Sun Yat-sen University, introduced that due to genetic defects, the lack of galactose cerebroside-β-galactosidase in the body of Crabber patients eventually leads to impaired nervous system development.
After consulting relevant information at home and abroad, Yuanyuan's condition must be completed within 6 months as soon as possible to prevent further damage to the nervous system. The medical team believes that the preferred source of hematopoietic stem cells is cord blood. Very fortunately, the good news from the Guangdong Provincial Cord Blood Bank - a copy of the cord blood and the round match are all in line! On March 24, this precious cord blood arrived at the hospital on time under the escort of the staff of the Guangdong Provincial Cord Blood Bank, and after recovery from the water bath, it was slowly injected into the yuanyuan body to help her overcome the disease.
Professor Fang Jianpei, chief expert of the Department of Pediatrics at Sun Yat-sen Memorial Hospital of Sun Yat-sen University, said in an interview that cord blood is one of the three major sources of hematopoietic stem cells, which can rebuild the blood and immune system. As the indications continue to broaden, dozens of diseases can be radically cured by hematopoietic stem cell transplantation, including malignant non-hematologic diseases such as Klaber's disease.
Professor Fang Jianpei, Chief Expert of the Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University
Professor Huang Ke explained that from the source of hematopoietic stem cells, for younger children, umbilical cord blood is a relatively high-quality source. This cord blood matching type is exactly the full locus of the site, so the incidence of graft-versus-host disease and the rate of virus carrying after transplantation are relatively few. Cord blood is a frozen stem cell that does not have a mismatch in terms of timing, and cord blood transplantation may have some other benefits, including the developmental potential of these tissue cells to nerve cells.
It is understood that after the transplantation, Yuanyuan also experienced two more dangerous medical processes, thanks to the superb medical skills and meticulous care of the entire medical team, and finally turned the danger into a disaster and successfully survived the difficulties. Yuanyuan successfully exited the transplant warehouse on April 14 and was officially discharged from the hospital on April 28. In the future, the medical team will regularly monitor the level of enzymes in the circle and track the development of the nervous system.
[Reporter] Yan Huifang
[Correspondent] Yu Jiana
【Author】 Yan Huifang
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