Shwachman Diamond syndrome (SDS) is a multisystem disorder with heterogeneous clinical presentation. We examined medical records of 11 patients (now age 9–30 years, with confirmed SBDS gene mutation) attending SDS multidisciplinary clinic in Leeds (UK) to understand their clinical characteristics, time to diagnosis and progression over time.
Results Seven children in our group had one affected SDS relative; all had variable presentation, severity and progression; genotype-phenotype correlation did not exist even within affected siblings in same family. Median age at initial presentation was 3 months (0–7 m) with median delay to clinical diagnosis at 17 months (2 m–12 yr). Failure to thrive or steatorrhoea together accounted for initial concern in 81%. Most (7/11) had documented negative sweat test at an early age with proven exocrine pancreatic insufficiency (EPI) in 3/11, yet suspicion of SDS was not raised despite SDS being the second commonest cause of EPI after cystic fibrosis. The severity of symptoms at presentation and rate of progression influenced the recognition and suspicion of the condition.
Over time, all patients developed recurrent infections, haematological abnormalities, dental/skeletal abnormalities and neuropsychological/ developmental issues. During follow up, growth and pancreatic insufficiency improved, bone marrow became dysplastic in 30% with decrease in the frequency/severity of infections. There was no leukemic transformation or deaths in our study group.
Conclusion Timely and early referral to specialist services will not only prevent morbidity, enable appropriate follow up with early recognition of complications and institution of preventive patient care but also promote family’s understanding of and coping with the syndrome.