Cover news reporter Zhou Jiayi
On December 14, Xuanxuan, a 2-year-old kidney transplant baby, was about to be discharged from sichuan provincial people's hospital. Mao Yu, deputy chief physician of pediatric surgery, said that this strong "fighting baby" has undergone 3 major surgeries in less than two years, and he is a patient with the rare disease Denys-drash syndrome (Dennis-Drash, the name of the first doctor to discover the disease). Denys-drash syndrome, or DDS for short, is a rare disease that has occurred due to mutations in the WT1 gene, with fewer than 500 cases reported worldwide. The disease leads to serious abnormalities of the genitourinary system, resulting in problems such as gender blur of the vulva, hormone-resistant nephrotic syndrome, and kidney tumors. Children often do not live to adulthood and die, and the entire childhood will suffer from various discrimination because of the ambiguity of the vulva, nephrotic syndrome will make the child run between home and the hospital all year round.
First battle – choose gender
Xuan Xuan was found to have an abnormal external genitalia when he was born, and his parents listened to the recommendations of other patients and paid attention to the hypospadias website "Chicken Amelie" created by the Pediatric Surgery Department of the Provincial Hospital. When the child turned 1 year old, the parents rushed to the Sichuan Provincial People's Hospital for treatment at the Pediatric Surgery Dr. Mao Yu's Sexual Development Abnormality and External Genital Malformation Clinic, and after a detailed physical examination and hormone examination, as well as repeated analysis and verification by the prenatal diagnosis center, after waiting for 1 month in the torment, the child was diagnosed with Denys-drash syndrome. Dr. Mao informed the parents of the characteristics and prognosis of the disease, and the parents of the children were caught in a dilemma. If you choose to be treated, due to the lack of mature programs and guidelines for rare diseases as a reference, there are too many uncertainties in the treatment process, it is likely to spend a lot of financial resources and manpower, the child has suffered great pain, and finally died; the parents of the child are tossing and turning, suffering, and finally made up their minds, standing in the same camp as the doctor, facing the unpredictable outcome and the bumpy future together, and letting go for the child's life and health.
Dr. Mao and our rare disease team have treated several of these children's experience and experience, and decided to choose to perform sex selection and external genital surgery before the child's kidney lesions have occurred. After repeated arguments and consultations with the children's family, the pediatric urology department, the department of pediatric nephrology, the department of endocrinology, the organ transplant center, the department of anesthesiology, the department of anesthesia, the department of prenatal diagnosis, the department of psychosomatic medicine, and the department of medical ethics, the team finally chose the male gender as the gender of his future upbringing. Robot-assisted dysplasia hysterovaginal resection, gonadal exploration and external genital virilization surgery, because bilateral dysplasia testicles contain gonadocyte tumors were found during the operation, so bilateral orchiectomy was performed at the same time, and the kidney condition was closely monitored after surgery.
Fight again – left nephrectomy
However, half a year after the operation, urinary ultrasound found that nephroblastoma appeared in the left kidney. Although the possibility of this situation has been foreseen before, when the results are in front of parents and have to choose, it is particularly heart-wrenching and sad. Parents still do not give up, and they must do their best to heal to the end. After multidisciplinary and multi-specialty joint discussions in pediatric urology, organ transplantation, pediatric nephrology, nephrology, etc., it was decided to remove the left kidney, and the kidney transplant was put on the agenda, and the preparation for kidney transplantation related matching was carried out. After making all preparations, The left kidney was removed by Director Tang Yunxi of the Department of Pediatric Urology and Dr. Qin Daorui. After surgery, the child enters the pediatric hematology department for chemotherapy treatment. Since then, close follow-up has been carried out and no recurrence of the tumor has been found.
Three wars – kidney transplantation
In November this year, the baby was 2 years and 4 months old. Urinary routinely reveals abnormal protein in the urine, decreased blood albumin, and nephrotic syndrome is considered. Unfortunately, several lesions that can occur with Denys-drash syndrome have emerged. Parents still insist on treatment and never give up. At this time, the baby's right side of the diseased kidney has not yet entered terminal kidney disease, and has not yet reached the indications of traditional kidney transplantation. However, if a kidney transplant is not performed, long-term loss of protein in the blood through the urine requires not only long-term transfusion of a large amount of human blood albumin, but also explosive infection due to low globulin levels leading to reduced resistance (there have been DDS patients who died of infection during the waiting for kidney transplantation).
Yang Hongji, director of the Organ Transplant Center, applied to the National Transplant Ethics Committee for a super-indication transplant and was approved. The Pediatric Urology and Organ Transplant Centre discussed the surgical plan three times and made careful arrangements. Considering the young age of the child, in order to ensure the safety of the child's life, it was decided to perform a kidney transplant while retaining the right kidney.
On December 1, after obtaining the kidney source, the organ transplant center, pediatric surgery, surgical intensive care unit, children's blood and other multi-disciplinary cooperation, led by Director Yang Hongji, carried out kidney transplantation for the baby. The operation was successful, the baby was transferred to the pediatric surgical ward after safely passing through the dangerous period in the surgical intensive care unit, and has gradually resumed eating, and the transplanted kidney survives well.
After recovery from surgery, the baby also undergoes surgery to remove the stent tube in the transplanted kidney, remove the diseased kidney on the right side, and repair the second stage of the urethra.
What can we do for people with rare diseases? Qin Daorui, attending physician of pediatric surgery, reminds that the first is to tell family and friends about rare diseases, so as to increase the attention to rare diseases; second, to help patients. Learn about rare diseases, recognize and help rare disease patients, and join related public welfare activities.