Shwachman-Diamond syndrome
How is it treated?
Treatment is by pancreatic enzyme replacement and multi-vitamin supplements with prophylactic antibiotics to prevent infection and aggressive treatment of infections when they occur. Haematological and immunological defects may require appropriate specific treatment. Psychological intervention and feeding interventions may also be needed.
A register of patients is maintained in the Department of Gastroenterology, Great Ormond Street Hospital for Children, London WC1N 3JH.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()