Intractable Rare Dis Res. 2021;10(4):223-237. (DOI: 10.5582/irdr.2021.01134)

Current diagnosis and management of rare pediatric diseases in China

Yang D, Ren X, Lu Y, Han J


This review categorizes and summarizes the rare pediatric diseases that have been included in the First List of Rare Diseases that was jointly published by the National Health Commission and four other government departments in China in 2018. In total, 58 diseases that develop during childhood are included. These diseases involve nine organ systems, including the musculoskeletal, respiratory, immune, endocrine and metabolic, nervous, cardiovascular, hematological, urinary, and integumentary systems. Affected children often have multiorgan involvement with various presentations. Severe diseases can cause acute symptoms starting in the neonatal period that lead to increased morbidity and mortality without prompt management. Early diagnosis and treatment can significantly change the course of a disease and improve its prognosis. This work systemically reviews the status of rare pediatric diseases with a relatively high incidence in the First List of Rare Diseases.

KEYWORDS: rare pediatric diseases, diagnosis, management, China

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