Tuesday, June 3, 2008

Diagnostic Criteria & Minimum Requirements for Follow-up


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


*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


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


*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


For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America