Schimke免疫-骨发育不良一例并文献复习

Schimke immuno-osseous dysplasia （SIOD） ： A case report and review of literatures

目的对1例Schimke免疫．骨发育不良女孩进行临床及基因分析，并结合既往文献报道进行临床及基因结果的对比，为Schimke免疫一骨发育不良这一罕见病提供临床及基因资料。方法详细收集首都儿科研究所1例Schimke免疫．骨发育不良的患儿临床资料，并提取外周血应用PCR扩增进行患儿及父母的SMARCALl基因检测。通过文献复习了解本病的临床特征。结果患者女，10岁，因“身高增长缓慢3年”就诊，身高123cm（〈P3），特殊面容，皮肤色素沉着，骨骺发育不良，细胞免疫降低，蛋白尿。SMARCALl基因检测显示患儿具有c．445C〉T（P．Q149X）和c．1933C〉T（P．R645C）复合杂合突变。c．445C〉T（P．Q149X）为未报道的无义突变．c．1933C〉T（P．R645C）为既往有报道的错义突变。结合文献复习．国内确诊的4例患者临床均有矮小、特殊面容、蛋白尿、骨骺发育不良表现，但病情轻重及基因改变各不相同。结论以“矮小”就诊患儿，如伴有特殊面容、骨骺发育不良、皮肤色素沉着和蛋白尿等表现，需注意Schimke免疫-骨发育不良的可能．明确诊断依赖于SMARCALl基因检测。

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia （ SIOD ） was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents＇ DNA were extracted from blood for detecting SMARCAL1 gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of ＂ slow growth in height for 3 years＂. Her stature was 123 cm （ 〈P3 ）. She was found to have special facial features. She had multiple small caf6-au- lair spots, osseous dysplasia, cellular immune deficiency and proteinuria. SMARCAL1 gene analysis of the patient showed c. 445C〉T （p. Q149X） and c. 1933C〉T （p. R645C） compound heterozygous mutation. A novel nonsense c. 445C〉T （p. Q149X）was found. One reported missense mutations c. 1933C 〉T （p. R645C） was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, caf6-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.