Objective  To analyze the characteristics of the disease spectrum of patient with rare diseases in Tianjin Children's Hospital.

Methods  A retrospective analysis was conducted on the discharge medical records of patients with rare disease from January 1, 2015 to December 31, 2024, retrieved from the medical record management system of Tianjin Children's Hospital. Based on the First Batch of Rare Disease Catalog and corresponding ICD-10 coding standards, the diseases were categorized, with a focus on analyzing the disease composition, sequence changes, age, and gender characteristics of rare disease inpatients were analyzed.

Results  2,112 patients were included, including 1,318 males (62.41%) and 794 females (37.59%). The highest proportion of patients was in the infancy period (including the neonatal stage), with 738 cases (34.94%). Among them, 1,172 cases (55.50%) were local residents, and 940 cases (44.50%) were from other regions. The overall survival rate reached 98.58% (2,082 cases). The top ten rare diseases with high incidence account for 60.56%, followed by idiopathic cardiomyopathy, X-linked agammaglobulinemia, Langerhans cell histiocytosis, methylmalonic acidemia, coronary artery ectasia, spinal muscular atrophy, tuberous sclerosis, retinoblastoma, 21-hydroxylase deficiency, and hemophilia. There are significant differences in gender and age distribution among patients with rare diseases.

Conclusion  The diagnosis rates of cardiovascular, hematological, and neurological diseases are notably high among pediatric rare disease patients, highlighting the need to strengthen early screening and differential diagnosis to improve the level of diagnosis and treatment.

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