Abstract:
Objective To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.
Methods We used retrospective analysis to analyze the clinical data of four patients who were diagnosed with SIOD at the Children′ hospital of Fudan University from May 2018 to June 2024.
Results The onset of disease of the four patients of this study was in their early childhood or preschool. All four patients had lymphopenia. Two patients had proteinuria, and one patient has progressed to chronic renal failure. One patient presented with short stature. The treatment for the four patients was mainly by symptomatic supportive therapy and on prevention and delay of renal failure disease.
Conclusions The patients with SIOD have different onset symptoms and progression of the disease.The treatment has not yet completely cured the disease. The clinical diagnosis and treatment of SIOD remains a challenge and needs further investigating.
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