A Case Report Of Shwachman-Diamond Syndrome And Literature Review

Background:Shwachman-Diamond syndrome(SDS)is a rare autosomal recessive inherited disorder characterized by exocrine pancreatic dysfunction,congenital anomalies,bone marrow failure,and predisposition to myelodysplastic syndrome(MDS)and leukemia,particularly acute myeloid leukemia(AML).About 90%of patients with SDS harbor mutations in the Shwachman-Bodian-Diamond syndrome(SBDS)gene located on chromosome 7q 11.Objects:The purpose of the study is to diagnose a casemanifesting short stature,malformations of the legs,prolonged fever and infection,steatorrhoea by physical examination,laboratory detection and gene sequencing,correct the hematopoietic system disorder by supportive treatment,and improve the recognizations in diagnosis and therapeutic methods of Shwachman-Diamond syndrome.Subjects and Methods:(1)Subjects:A 32-year-old man with pale complexion,physical fatigue,fever and coughing.(2)Methods:1.By a general physical examination,we find the patient has a short stature and lateral bending deformity of two femurs;2.Family history:the patient's elder brother,who had the same symptoms and signs,died because of hematopoiesis failure three months ago.3.Hematologic examination:blood routine,liver and kidney functions,biochemistry examination,blood coagulation,lipase,amylase,vitamins,folic acid,pathogens,etc.4.Image examination:chest and abdomen computed tomography(CT)scanning.The aim is to evaluate the lung infection and the exocrine function of his pancreas.5.Assess the hematopoietic function of bone marrow by bone marrow puncture;eliminate other related blood system diseases by examination of immunophenotyping,genes and chromosomes;find the SBDS genes by gene sequencing.6.review the literatures and discuss the diagnosis,differential diagnosis,pathogenesis and treatment methods of the disease,which may give us a better understanding of Shwachman-Diamond syndrome.Results:According to clinical manifestations and examinations,we have the following diagnosis:1.Shwachman-Diamond syndrome 2.Lung infection(fungus,bacteria)3.Diabetes mellitus(type ?).Conclusion:We should consider the diagnosis of Shwachman-Diamond syndrome if a patient has congenital bone marrow failure(or manifesting acute leukemia,myelodysplastic syndrome),congenital anomalies and exocrine pancreatic dysfunction.The diagnosis consists of clinical diagnosis and molecular biological diagnosis.