http://www.shwachmandiamondamerica.org/SDSarticles.html
click on “Shwachman-Diamond Syndrome: UK Perspective
In this article you will see a box that says:
Diagnostic criteria for SDS
Exocrine pancreatic dysfunction (at least one of the
following):
*Abnormal quantitative pancreatic stimulation test
*Serum cationic trypsinogen below the normal range
Abnormal 72 hour faecal fat analysis plus evidence of
*pancreatic lipomatosis by ultrasonographic examination
or computerised tomography
AND
Haematological abnormalities (at least one of the following):
*Chronic (on two occasions at least 6 weeks apart):
single lineage or multilineage cytopenia with bone
marrow findings consistent with a productive defect:
– Neutrophil ,1.56109/l
– Haemoglobin concentration ,2 standard deviations
below mean, adjusted for age
– Thrombocytopenia ,1506109/l
Myelodysplastic syndrome
And a box that says:
Minimum requirements for follow-up:
These should include:
*DNA confirmation of the diagnosis, and offer of
screening to siblings where appropriate
*General clinical review and blood count every
3–6 months
*Serum concentrations of vitamin A, 25-OH vitamin D,
and vitamin E, and prothrombin time six monthly
*Annual review of steatorrhoea and pancreatic enzyme
supplementation
*A surveillance bone marrow, with cytogenetics, performed
annually or biennially
*Dental review at least annually, ideally every three
months, for preventive treatment, cleaning, and plaque
removal. Oral infections must be treated promptly by
local measures and antibiotics
*Review of growth, pubertal development, nutrition, and
gastrointestinal symptoms at least every six months,
with dietetic involvement.
*x ray examinations every five years to review the
evolution of skeletal abnormalities. If there is evidence
of abnormal long bone alignment, referral to an
orthopaedic surgeon may be appropriate
*Psychometric assessment at or before school entry, and
subsequent educational/psychological help as
required
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
