Shwachman-Diamond Syndrome
The Verona CF Center is the Regional Reference Center for Shwachman-Diamond Syndrome (Veneto Region Resolution no. 2707 of 29 December 2014).
Shwachman-Diamond Syndrome (SDS) is a rare disease, with an estimated frequency of 1/100,000-150,000 live births. The basic clinical features are pancreatic insufficiency at birth and poor growth as a result, together with haematological and bone alterations.
The discovery of the gene (SBDS) has enabled confirmation of diagnosis by DNA analysis, though not in all cases.
Activities
Whole-person care of SDS patients, with a multispecialty outpatient clinic: this provides consultations on all aspects of the syndrome, as well as periodic admissions for in-depth examination of critical features.
Since 2011, the Verona Cystic Fibrosis Center has managed the Italian SDS Registry.
Research programmes
- Role of inflammatory cytokines in SDS
- Survival curves of patients with SDS
- Gene expression in SDS patients’ mesenchymal stem cells and its clinical implications
- Lymphoblastoid cells as a cellular model in SDS
- Genome sequencing to study the clinical variability, course and prognosis of SDS
Collaborations
- Hospital for Sick Children (Toronto)
- Department of Engineering for Innovation in Medicine – Innovative Biomedicine Section, University of Verona (Director: Prof. Giuseppe Lippi)
Doctor in Charge
Dr Anna Pegoraro
Staff
Dr Lucia Martini
Times and Contact Details
Mon-Fri, by appointment
Outpatient clinic 045 812 2369
