背景:Shwachman-Diamond综合征(SDS)是一种罕见的常染色体隐性遗传病,诊断对临床医生来说是一个巨大的挑战,由于该病的临床表现多样。这里,我们报道了一个女孩,她被诊断出患有SDS,并有反复发烧的症状,转氨酶水平升高,和粒细胞缺乏症。讨论了诊断和治疗方面,并进行了文献综述。
方法:一名15个月大的女孩因反复发烧入院,粒细胞减少症,转氨酶水平升高。
方法:Shwachman-Bodian-Diamond综合征的复合杂合变体c.2582T>C:p.84Cfs3和c.96C>G:p。在对患者及其父母的血液样品进行测序后检测到Y32*。最后,她被诊断出患有SDS,并接受了复方甘草酸苷治疗,粒细胞集落刺激因子,和抗生素在共同感染的情况下。
结果:在随访期间,她的肝功能显示转氨酶水平下降,尽管中性粒细胞减少症仍然存在,但她在15个月后很少感染。
结论:SDS患者缺乏典型的临床症状,这给临床医生带来了巨大的挑战。基因检测技术在疾病诊断中发挥着重要作用。该患者无胰腺外分泌功能不全、骨骼异常等典型临床表现,我们报告这一病例旨在加强对该病的认识。
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive genetic disease, the diagnosis is a big challenge for clinician, as the clinical manifestations of the disease are diverse. Here, we report a girl who diagnosed with SDS with the symptoms of recurrent fever, elevated transaminase levels, and granulocytosis. The aspects of diagnosis and treatment were discussed and a literature review was conducted.
METHODS: A 15-month-old girl admitted to our hospital because of recurrent fever, granulocytopenia, and elevated transaminase levels.
METHODS: The compound heterozygous variant of Shwachman-Bodian-Diamond syndrome c.258 + 2T > C:p.84Cfs3 and c.96C > G:p.Y32* were detected after sequencing the blood samples from the patient and her parents. Finally, she was diagnosed with SDS and she was treated with compound glycyrrhizin, granulocyte-colony stimulating factor, and antibiotic in the
case of co-infection.
RESULTS: During the follow-up, her liver function showed the level of transaminases decreased and she rarely had infection after the age of 15 months although neutropenia is still present.
CONCLUSIONS: Patients with SDS lacks typical clinical symptoms, which presents a huge challenge for clinicians. Genetic testing techniques is playing an important role in the diagnosis of diseases. This patient without typical clinical manifestations such as exocrine pancreatic insufficiency and skeletal abnormality, we report this
case aimed to strengthen the understanding of the disease.