- VernacularTitle:一例Schimke免疫-骨发育不良患者的多学科诊治
- Author:
Juan DING
1
;
Wei WANG
1
;
Juan XIAO
1
;
Yan ZHANG
2
;
Huijuan ZHU
3
;
Wen ZHANG
4
;
Peng GAO
5
;
Limeng CHEN
6
;
Wei LYU
7
;
Xuan ZOU
8
;
Xiaoyi ZHAO
9
;
Hongmei SONG
1
;
Mingsheng MA
1
Author Information
- Publication Type:Journal Article
- Keywords: Schimke immuno-osseous dysplasia; short stature; immunodeficiency; osteodysplasia; nephropathy
- From: JOURNAL OF RARE DISEASES 2024;3(4):465-470
- CountryChina
- Language:Chinese
-
Abstract:
Schimke immuno-osseous dysplasia (SIOD)caused by
SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.