SDS

The SDS Consensus guidelines (2011) aims to improve healthcare by highlighting different aspects of SDS and facilitating early diagnosis, prevention, and therapy.

Shwachman-Diamond syndrome is a complex condition which affects different body functions. The pancreas  produces less enzymes for the uptake of food: exocrine pancreas insufficiency. In SDS the diagnosis EPI is usually established in the first year.

The bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, is called neutropenia. It is the most common haematological abnormality, occurring in nearly all patients with SDS. It might be seen in the neonatal period and it can be either persistent or intermittent, fluctuating from severely low to normal levels. In some patients, SDS neutrophils may exhibit defects in migration and chemotaxis.

Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections, and skin infections. It is recommended to test a whole blood count in SDS patients regularly and when fever occurs.

Individuals with Shwachman-Diamond Syndrome are at risk of developing aplastic anaemia and myelodysplastic syndrome, which has a risk to transform into acute myeloid leukaemia. For this reason, regular Complete Blood Count is necessary.

Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. 

Several other organs, including the liver, teeth, and skin may be affected. At diagnosis, liver enzymes should be evaluated.

Shwachman-Diamond Syndrome may be also associated with delayed speech and motoric development such as sitting, standing, and walking: moderate general developmental delay. A parental report indicates that over 50% of children experience delayed language development. Below average intellectual reasoning abilities are also evident with approximately. 1 in 5 meeting the diagnostic criteria for an intellectual disability (i.e., IQ < 2nd percentile). Difficulties in visual reasoning and visual-motor integration higher order language functioning (e.g. understanding figurative expressions, knowledge of synonyms), executive problem solving and attention have also been documented.