Recently, Shanghai Children’s Hospital successfully achieved a precise diagnosis for a cross-province case of a rare disease—Congenital Insensitivity to Pain with Anhidrosis (CIPA)—via a 5G remote multidisciplinary team (MDT) consultation. Characterized by the loss of pain sensation and the inability to sweat, this condition is extremely rare globally, with an estimated incidence of approximately 1 in 125 million.

The patient, a young child, initially sought treatment in Bozhou, Anhui Province, for "tongue ulcers." The parents reported that the child had shown signs of pain insensitivity since infancy and had never sweated. While genetic testing revealed an extremely rare genetic variant, local medical limitations prevented the determination of its pathogenicity, leaving the condition undiagnosed.

Dr. Li Hong, a Chief Physician in the Department of Hematology at Shanghai Children’s Hospital, is currently stationed at Bozhou Children’s Hospital. Upon identifying this rare case, she immediately initiated a remote consultation request with Shanghai Children’s Hospital to seek multidisciplinary support and guidance.

During the consultation, senior genetic counselors Yang Fan and Li Fei from the hospital’s Genetic Counseling Team performed an in-depth bioinformatics analysis and interpretation of the child’s genetic sequencing data. Simultaneously, Dr. Shao Jingbo, Director of the Hematology and Oncology Department, conducted a comprehensive assessment via high-definition video link, reviewing the child's clinical phenotype videos and complete medical history. Through close online collaboration and rigorous deliberation among the multidisciplinary experts, the team confirmed the diagnosis as "Congenital Insensitivity to Pain with Anhidrosis (CIPA)."

CIPA is a rare genetic disorder caused by loss-of-function variants in the ShanghaiDoctor.cnNTRK1ShanghaiDoctor.cn gene. Common symptoms include the absence of pain sensation, lack of sweating (anhidrosis), susceptibility to fractures, and recurrent infections. Currently, there is no radical cure for the disease; treatment focuses on symptomatic management, including monitoring body temperature, avoiding overheating or chilling, preventing trauma and infection, and providing surgical or anti-infective treatments for existing fractures or infections.

During the consultation, the expert team also provided professional guidance on disease management in response to the family's inquiries, addressing experimental approaches such as fecal microbiota transplantation. The hospital will continue to follow up with the family to ensure regular monitoring.

Since its relaunch in November 2022, the Medical Genetics Outpatient Clinic at Shanghai Children’s Hospital has provided over 4,000 consultations for children with rare and genetic diseases, covering more than 1,500 types of rare conditions.

The Medical Genetics Outpatient Clinic not only serves patients within the hospital efficiently but, with the expansion of partner institutions and the continuous improvement of the telemedicine network, these high-quality diagnostic resources are expected to reach more primary and remote hospitals. Through technological empowerment, expert deployment, and platform sharing, Shanghai Children’s Hospital is gradually building a wider and faster support network for rare disease diagnosis. This initiative ensures that more children can receive timely and precise professional diagnosis and treatment guidance "right at their doorstep," thereby contributing significantly to elevating the national standard of rare disease diagnosis and promoting the balanced distribution of medical resources.

Expert Profiles

Dr. Shao Jingbo

Director, Department of Hematology and Oncology; Chief Physician; Master's Supervisor.

Dr. Shao specializes in the diagnosis and treatment of various pediatric hematologic and oncologic diseases, including anemia of various causes, immune thrombocytopenic purpura (ITP), aplastic anemia, leukemia, and solid tumors. She is also proficient in the diagnosis and optimized treatment of common inherited blood diseases, such as hemophilia, hereditary hemolytic anemia, and thalassemia.

Yang Fan

PhD in Genetics; Birth Defect Prevention Counselor.

Clinical Genetics Group, Shanghai Institute of Medical Genetics.

Dr. Yang graduated from Peking Union Medical College (PUMC) with a major in Genetics. He has published 16 SCI papers, participated in 30 patent applications, and presides over one Youth Project of the National Natural Science Foundation of China.

Clinical Focus: Genetic counseling for pediatric chromosomal disorders and intellectual disability/developmental delay; genetic data analysis; interpretation of genetic test reports; and validation of gene locus functions.

Li Fei

PhD in Biochemistry and Molecular Biology; Birth Defect Prevention Counselor.

Clinical Genetics Group, Shanghai Institute of Medical Genetics.

Dr. Li graduated from Peking Union Medical College (PUMC) with a major in Biochemistry and Molecular Biology. She has published six articles in domestic and international journals, including ShanghaiDoctor.cnCell Death & DiseaseShanghaiDoctor.cn and ShanghaiDoctor.cnGeneShanghaiDoctor.cn.

Clinical Focus: Genetic counseling for pediatric chromosomal disorders and monogenic diseases; genetic data analysis; interpretation of genetic test reports; and gene function validation.

Research Interests: Diagnosis and pathogenesis of rare diseases.