JOURNAL OF RARE DISEASES 2024;3(4):446-452

doi:10.12376/j.issn.2097-0501.2024.04.006

Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review

Lingli HAN 1 ; Yajuan DONG 2 ; Bijun SUN 1 ; Wenjie WANG 1 ; Qinhua ZHOU 1 ; Luyao LIU 1 ; Jia HOU 1 ; Xiaochuan WANG 1 ; Jinqiao SUN 1

Affiliations

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Keywords

Schimke immuno-osseous dysplasia; clinical characterization; SMARCAL1 gene

Country

China

Language

Chinese

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.