Summary
Introduction. Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive multisystem disorder characterized by the clinical triad of exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. Due to the phenotypic diversity and rare prevalence of this syndrome, it is crucial to deepen the understanding of it’s clinical manifestation. The purpose of this article is to present 2 clinical cases, review the literature, and summarize the clinical aspects and molecular characteristics of SDS.
Methods. A literature review using the PubMed database and a clinical analysis of two individuals with confirmed SDS were performed. Keywords used in the search: Shwachman–Diamond syndrome, SBDS gene. The topic-related full-text scientific articles published in English between 2010 and 2023 were analyzed.
Results. The first patient had the clinical triad of SDS, while the second patient had bone marrow dysfunction. Patients also had other features associated with SDS, such as reduction of lymphocyte fractions in an immunoassay, bone marrow hypoplasia, hypothyroidism (subclinical), visual defects, skin damage, dental damage, splenomegaly, learning problems. SDS was confirmed by genetic testing in both patients. The literature on SDS, epidemiology, genetic causes, molecular mechanisms of pathogenesis, clinical features, diagnosis, and principles of treatment was reviewed. SDS is a rare disorder with a prevalence of 1 in 75,000 individuals. The main cause is biallelic pathogenic variants in the SBDS gene, which encodes the multifunctional SBDS protein. This syndrome usually manifests by exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal anomalies. Disorders of other organ systems are also possible, but less common. Diagnosis is based on characteristic clinical symptoms and molecular genetic testing. The care of a multidisciplinary team is recommended for patients, and appropriate symptomatic treatment is applied according to the clinical signs.
Conclusions. SDS is a rare genetic disorder. Main clinical features of this syndrome are exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal anomalies. Diagnostic is often based on genetic testing, therefore it is important to refer the patient to specialists in the appropriate fields and genetic counseling when characteristic signs of SDS are observed.
