Cover news reporter Zhou Jiayi
"Is the karyotype of a chromosome a fish result, and how many cells are counted?" "Why are the genetic information of the two sisters different?" "QPCR is needed to verify my sister's genetic mutation data." On the afternoon of December 30th, in the conference room of the Pediatric Building of Chengdu Women and Children's Central Hospital, doctors from the Department of Pediatric Genetics and Endocrinology, Pediatric Urology, Pediatric Gynecology, Imaging and other departments participated in a multidisciplinary consultation on rare diseases with abnormal sexual development.
It is understood that from now on, Chengdu Women and Children's Central Hospital Children's Rare Disease MDT was officially launched, and the "Pocket Women and Children" appointment channel officially opened a multidisciplinary joint outpatient clinic for rare diseases in children, and the object of this multidisciplinary consultation was the first patient to make an appointment.
Is it a boy or a girl? Multidisciplinary team experts meet patients and families face-to-face
"We had never heard of the disease before, and if we had known at the time that our children would have had it, we might have seriously considered fertility." Shin Shin (not her real name), who sat in the front row, told the doctors.
In October this year, my parents brought their 7-year-old daughter Xinxin and 4-year-old daughter Qingqing (pseudonym) to the Department of Pediatric Genetics and Endocrinology and Metabolism of Chengdu Women and Children's Central Hospital because the child's external genitalia were different from other children', and both daughters had this symptom.
Shin's external genitalia develop differently from normal girls, with abnormal vulvas found at birth, a mass in the right groin area 3 years ago, and pain two months ago, and gradually appeared symptoms such as thickened voice and further hypertrophy of the clitoris. After the relevant examination, Shin Shin was diagnosed with sexual development abnormalities (DSD). This multidisciplinary consultation is to further give Shin Shin a comprehensive assessment and treatment.
In order to let the doctors know more about the child's situation, the Department of Pediatric Genetics and Endocrinology and Metabolism moved the examination room to the consultation room, "and also take the child to the pediatric department to do a color ultrasound." After the examination, the pediatric urological surgeon told the child's parents, "Continue drug treatment, after the hormone level is stable, follow-up also need to do psychological assessment and psychological cognition in conjunction with the psychological department, determine the child's gender, and then undergo surgical treatment." ”
Clarify the timing of surgery, assess growth potential and fertility function, determine the diagnosis and treatment plan... After a multidisciplinary consultation, these issues will be quickly identified.
The multidisciplinary combination of medical associations and rare diseases brings hope to newborn families
"In the list of 121 rare diseases issued by the National Health Commission, the endocrinology department accounts for half of them, and throughout the year, the department will encounter many difficult diseases and rare diseases, and there are dozens of cases of children with abnormal sexual development alone." Cheng Xinran, director of the Department of Pediatric Genetics and Endocrinology and Metabolism, told reporters.
In April this year, the hospital's medical department received a call from a medical association in our city, saying that the obstetrics department of the hospital delivered a special newborn with a vague gender, requesting consultation from the department of pediatric genetics and endocrinology.
"At that time, my mother was in the postpartum emotional instability period, crying to me that every time I changed my child's diapers, it was a psychological torture, and thinking about the future of my child, I was even more remorseful and helpless." Director Cheng recalled, "After the child arrived at the hospital, we quickly organized a multidisciplinary team of pediatric urology, neonatology, radiology, ultrasound imaging, etc., and quickly gave a treatment plan, and soon the child's condition stabilized.
Experts patiently explained to the parents of the children, relaxed the mood, such diseases can be diagnosed and treated, and the daily diet, drug adjustment after infection stress, the time of follow-up diagnosis and other matters that need attention, made a detailed explanation, the child's mother said emotionally, it is Chengdu Women and Children's Central Hospital to bring hope to the child and her family.
The "Strongest Heavenly Group" works together to make intractable diseases and rare diseases have a way to follow
In order to further implement the service concept of "everything for the health of women and children", the hospital's "Handheld Women and Children" appointment channel officially opened a multidisciplinary joint outpatient appointment window for children's rare diseases, striving to provide more accurate and individualized clinical diagnosis and treatment for children with difficult and rare diseases, and provide more reasonable, effective and convenient medical services.
According to Cheng Xinran, director of the Department of Pediatric Genetics and Endocrinology and Metabolism of the Rare Diseases Joint Clinic, according to the different needs of patients, the joint outpatient clinic has professional groups such as children's digestion, respiration, blood, nerves, cardiovascular, immune, kidney, endocrine, neonatal, PICU, etc., and the doctors participating in the discussion are required to be the director (deputy director) of the relevant disease department or the deputy senior and above qualified physicians.
"Today there were two appointment patients, we only put two numbers, but the system put one more, and thought that no one would pay attention to this new outpatient clinic, I didn't expect to be robbed immediately." Suna, attending physician of the Department of Pediatric Genetics and Endocrinology metabolism, told reporters, "It can be seen that there are still many patients with needs. In order to let these children with rare diseases have a way to find when they visit the doctor, help them from 'not big' to 'live for a long time', from no 'medicine' to 'have medicine to cure', and even 'normal work, marriage and children', and become independent 'social people', the hospital actively promotes the opening of MDT for rare diseases, further simplifies the medical process for patients, improves medical efficiency, and truly achieves 'patient-centered'. ”
According to reports, at present, the outpatient clinic is tentatively scheduled to set 5-10 numbers every Tuesday, and there are two ways for patients to take the initiative to make appointments and doctors to guide appointments. "Doctor-led appointment refers to the initial diagnosis that has been made by a specialist doctor, who thinks that it is more difficult and requires multidisciplinary diagnosis; another situation is that the patient has this need, in the palm of the woman and child registration appointment number, the background receives information, we will take the initiative to contact the patient to understand the relevant situation, according to his needs and the preliminary analysis of the condition, determine the diagnosis and treatment department involved in the discussion, so that the 'strongest heavenly group' works together to protect the health of the patient."
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