Admission patterns and clinical management of rare diseases in 46 pediatric intensive care units across China: a multicenter survey

Objective To investigate the admission status of pediatric patients with rare diseases in pediatric intensive care units (PICUs) across China, to provide an empirical basis for optimizing critical care management, resource allocation, and healthcare policy development for rare pediatric diseases. Methods An online questionnaire survey was administered to gather cross-sectional data on the admission, diagnosis, treatment, and resource requirements of pediatric patients with rare diseases. A total of 65 questionnaires were returned from all invited member institutions of the Pediatric Critical Care Branch of the Chinese Medical Doctor Association across 30 provinces/municipalities; after exclusion of invalid questionnaires, 46 PICUs across 20 Chinese provincial-level regions constituted the final analytic sample. Data collection covered January 1, 2024, to December 31, 2024. Descriptive and comparative statistical analyses were performed on the valid data. Results A total of 46 PICUs were included in the final analysis. In 2024, these PICUs admitted 1,765 pediatric patients with rare diseases, accounting for a median of 3.8% of PICU admissions across centers (range 2.1%–6.5%); the pooled proportion was 6.4% (2,231/34,625). The admitted cases covered 89 disorders (43.0%) listed in the National Rare Disease Catalogs of China . Inherited metabolic disorders (48.3%,95% CI: 45.2–51.4%) and neurological disorders (37.6%,95% CI: 34.6–40.6%) were the predominant disease categories, with children aged <3 years accounting for 43.7% of all cases. Most patients were admitted to the PICU due to status epilepticus, respiratory failure, and metabolic crises, indicating high demand for critical care interventions. The overall median time to diagnosis was 30 days; only 26.1% of centers were able to establish a diagnosis within 1 week. The clinical utilization rate of orphan drugs remained markedly low, with exorbitant medication costs and inadequate national health insurance coverage reported as the primary barriers. Healthcare institutions urgently identified the need for enhanced orphan drug accessibility, the establishment of dedicated diagnostic and assistance funds, and accelerated national insurance inclusion. Conclusion Pediatric rare diseases frequently manifest during infancy and early childhood with acute, life-threatening presentations requiring PICU admission. Currently, clinical management faces substantial bottlenecks, including prolonged diagnostic delays and restricted accessibility to orphan drugs. National-level coordination is urgently required to construct rapid diagnostic green channels, strengthen medication support programs, and optimize the hierarchical healthcare delivery network.