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

Lingli Han; Yajuan Dong; Bijun Sun; Wenjie Wang; Qinhua Zhou; Luyao Liu; Jia Hou; Xiaochuan Wang; Jinqiao Sun

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

VernacularTitle:4例 SMARCAL1 基因突变相关Schimke免疫-骨发育不良患者临床特征分析并文献复习
Author: 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
Author Information

1. Department of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, China.
2. Out-Patient Physical Examination Center, the General Hospital of Western Theater Command, Chengdu 610083, China.
Publication Type:Journal Article
Keywords: Schimke immuno-osseous dysplasia; clinical characterization; SMARCAL1 gene
From: JOURNAL OF RARE DISEASES 2024;3(4):446-452
CountryChina
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.