PDF(Pubmed)
Abstract：
BACKGROUND: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS).
METHODS: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A.
METHODS: The female patient was 5 months\' old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and development and oily stool. After sequencing the blood samples from patients and their parents, the heterozygous mutations of sbdsc.258 +2T>C and c.184a>T were detected.
METHODS: After admission, the patient was provided compound glycyrrhizin, Newtide formula milk supplemented with probiotics, fat-soluble vitamins, oral medication to adjust the spleen and stomach, and other symptomatic treatments.
RESULTS: The stool traits improved, and the levels of liver function transaminases decreased compared with before.
CONCLUSIONS: SDS is a rare disease with a variety of clinical manifestations. Pancreatic exocrine dysfunction, blood system manifestations, and bone abnormalities are common clinical manifestations, and genetic testing is helpful for diagnosis.
METHODS: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A.
METHODS: The female patient was 5 months\' old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and development and oily stool. After sequencing the blood samples from patients and their parents, the heterozygous mutations of sbdsc.258 +2T>C and c.184a>T were detected.
METHODS: After admission, the patient was provided compound glycyrrhizin, Newtide formula milk supplemented with probiotics, fat-soluble vitamins, oral medication to adjust the spleen and stomach, and other symptomatic treatments.
RESULTS: The stool traits improved, and the levels of liver function transaminases decreased compared with before.
CONCLUSIONS: SDS is a rare disease with a variety of clinical manifestations. Pancreatic exocrine dysfunction, blood system manifestations, and bone abnormalities are common clinical manifestations, and genetic testing is helpful for diagnosis.
摘要：
背景：这项研究的目的是分析Shwachman-Diamond综合征（SDS）的遗传异常和临床表现。
方法：一名中国婴儿，转氨酶升高，sbdsc.258+2T>C和c.184a>Tc.2922G>A.
方法：女性患者发病5个月，以转氨酶升高为首发表现，伴有生长发育受限和排便油腻。在对患者及其父母的血液样本进行测序后，检测到sbdsc.258+2T>C和c.184a>T的杂合突变。
方法：入院后，患者服用复方甘草酸苷,补充益生菌的Newtide配方奶，脂溶性维生素,口服药物调整脾胃，和其他对症治疗。
结果：粪便性状得到改善，肝功能转氨酶水平较之前下降。
结论：SDS是一种少见疾病，临床表现多样。胰腺外分泌功能障碍,血液系统表现，骨异常是常见的临床表现，基因检测有助于诊断。
方法：一名中国婴儿，转氨酶升高，sbdsc.258+2T>C和c.184a>Tc.2922G>A.
方法：女性患者发病5个月，以转氨酶升高为首发表现，伴有生长发育受限和排便油腻。在对患者及其父母的血液样本进行测序后，检测到sbdsc.258+2T>C和c.184a>T的杂合突变。
方法：入院后，患者服用复方甘草酸苷,补充益生菌的Newtide配方奶，脂溶性维生素,口服药物调整脾胃，和其他对症治疗。
结果：粪便性状得到改善，肝功能转氨酶水平较之前下降。
结论：SDS是一种少见疾病，临床表现多样。胰腺外分泌功能障碍,血液系统表现，骨异常是常见的临床表现，基因检测有助于诊断。
