CAJ | 학술논문

目的探讨常染色体隐性遗传Shwachman-Diamond综合征(SDS)患儿的临床特点、基因特征.方法对2例经临床和基因突变分析明确诊断的SDS患儿,回顾性分析临床特点、实验室及影像学表现、基因测序结果,并对2004年以来国外报道的311例中临床与基因突变资料完整的病例进行了文献复习.结果 (1)2例患儿均表现为体重、身高明显落后,低于正常同龄男童相应参考值的第3百分位点,外周血象中性粒细胞绝对计数＜ 1500×106/L,四肢长骨X线片表现有骨质密度异常,腹部CT显示胰腺脂肪化；SBDS基因突变检测明确2例患儿均存在基因复合杂合突变,确诊为SDS.(2)回顾国外报道的311例患儿资料,临床资料完整的共75例,其中胰腺外分泌不足或胰腺影像学异常表现、中性粒细胞减少和骨骼异常分别为61例(81.3％)、64例(85.3％)和47例(62.7％).基因突变资料完整共138例,其中c.183_184TA＞ CT,c.258+ 2T＞C以及c.[183_184TA＞ CT; 258+2T＞C]占基因突变的61.6％(85/138).结论 SDS患儿常见临床三大表现为:胰腺脂肪化和外分泌不足、外周血象中至少一系下降,尤其中性粒细胞减少和骨骼异常.SBDS基因检测能够发现致病突变.
목적 탐토상염색체은성유전Shwachman-Diamond종합정(SDS)환인적림상특점、기인특정.방법 대2례경림상화기인돌변분석명학진단적SDS환인,회고성분석림상특점、실험실급영상학표현、기인측서결과,병대2004년이래국외보도적311례중림상여기인돌변자료완정적병례진행료문헌복습.결과 (1)2례환인균표현위체중、신고명현락후,저우정상동령남동상응삼고치적제3백분위점,외주혈상중성립세포절대계수＜ 1500×106/L,사지장골X선편표현유골질밀도이상,복부CT현시이선지방화；SBDS기인돌변검측명학2례환인균존재기인복합잡합돌변,학진위SDS.(2)회고국외보도적311례환인자료,림상자료완정적공75례,기중이선외분비불족혹이선영상학이상표현、중성립세포감소화골격이상분별위61례(81.3％)、64례(85.3％)화47례(62.7％).기인돌변자료완정공138례,기중c.183_184TA＞ CT,c.258+ 2T＞C이급c.[183_184TA＞ CT; 258+2T＞C]점기인돌변적61.6％(85/138).결론 SDS환인상견림상삼대표현위:이선지방화화외분비불족、외주혈상중지소일계하강,우기중성립세포감소화골격이상.SBDS기인검측능구발현치병돌변.
Objective To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS),a rare autosomal recessive disease,in children.Method Clinical manifestations,laboratory examinations,image studies,and genetic testing of two cases with SDS were presented,analyzed,and discussed;311 SDS cases from the related literature since 2004 were reviewed.Result (1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation,persistent or intermittent neutropenia (＜ 1500 × 106/L) and/or anemia,and skeletal abnormalities.Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA ＞CT,c.258 +2T ＞C) for both subjects.This genotype is the result of the inheritance of abnormal alleles from both healthy parents.(2) Among 311 cases,75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75 ; 81.3％),hematologic abnormalities with single-or multi-lineage cytopenia (64/75; 85.3 ％),and bone abnormalities (47/75; 62.7％).c.183_184TA ＞ CT,c.258 + 2T ＞C,and c.[183_184TA ＞ CT; 258 +2T ＞ C] are the major types of SBDS gene mutation(85/138 ;61.6％).Conclusion SDS is characterized by exocrine pancreatic dysfunction with malabsorption,malnutrition,and growth failure; hematologic abnormalities with single-or multi-lineage cytopenia,and bone abnormalities.The diagnosis of SDS relies on a combination of clinical features and gene-based tests.The SDS patients need long term follow-up and management.