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Abstract：
Shwachman Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder and due to its complex and varied clinical manifestations, diagnosis is often delayed. The purpose of this study was to investigate the clinical manifestations and genetic characteristics of SDS in Chinese patients, in order to increase pediatricians\' awareness of SDS and to allow early diagnosis. We conducted a search to identify patients presenting SBDS gene pathogenic variant in two Chinese academic databases. We analyzed and summarized the epidemiology, clinical features, gene pathogenic variants, and key points in the diagnosis and treatment of SDS. We reviewed the clinical data of 39 children with SDS from previously published articles. The interval from the onset of the first symptoms to diagnosis was very long for most of our patients. The age of presentation ranged from 1 day to 10 years (median: 3 months). However, the age of diagnosis was significantly delayed, ranging from 1 month to 14 years (median: 14 months). Hematological abnormalities were the most common presentation, 89.7% (35/39) at the beginning and 94.9% (37/39) at diagnosis of SDS. Diarrhea was the second most common clinical abnormality at the time of diagnosis. 59% (23/39) of patients had a typical history of persistent chronic diarrhea. Furthermore, hepatic enlargement or elevation of transaminase occurred in 15 cases (38.5%). 56.4% patients (22/39) had a short stature, and 17.9% (7/39) patients showed developmental delay. Additionally, twenty patients had compound heterozygous pathogenic variants of c.258 + 2T > C and c.183_ 184TA > CT. Children with SDS in China had high incidence rates of chronic diarrhea, cytopenia, short stature, and liver damage. Furthermore, SBDS c.258 + 2T > C and c.183_ 184TA > CT were the most common pathogenic variants in patients with SDS. The diagnosis of SDS can be delayed if the clinical phenotype is not recognized by the health care provider.
摘要：
ShwachmanDiamond综合征（SDS）是一种罕见的常染色体隐性遗传疾病，由于其复杂多样的临床表现，诊断经常延迟。目的探讨中国人SDS的临床表现和遗传特点,以提高儿科医生对SDS的认识并进行早期诊断。我们在两个中国学术数据库中进行了一项搜索，以识别存在SBDS基因致病变异的患者。我们对流行病学进行了分析和总结，临床特征,基因致病变异，以及SDS的诊断和治疗要点。我们回顾了先前发表的文章中39例SDS患儿的临床数据。对于我们的大多数患者来说，从最初症状发作到诊断的间隔非常长。呈现年龄为1天至10岁(中位数:3个月)。然而,诊断年龄明显延迟，1个月至14年（中位数：14个月）。血液学异常是最常见的表现，初诊时89.7%(35/39),诊断SDS时94.9%(37/39)。腹泻是诊断时第二常见的临床异常。59%(23/39)的患者有典范的迁延性慢性腹泻病史。此外，肝脏肿大或转氨酶升高15例(38.5%)。56.4%的患者（22/39）身材矮小，17.9%(7/39)的患者出现发育迟缓。此外,20例患者具有c.258+2T>C和c.183_184TA>CT的复合杂合致病变异。中国儿童SDS的慢性腹泻发病率较高,血细胞减少,身材矮小,和肝损伤。此外，SBDSc.258+2T>C和c.183_184TA>CT是SDS患者中最常见的致病变异。如果临床表型未被医疗保健提供者识别,则SDS的诊断可被延迟。
