TREATMENT OF NEUTROPENIA IN SHWACHMAN DIAMOND SYNDROME WITH RECOMBINANT HUMAN GRANULOCYTE-COLONY-STIMULATING FACTOR (G-CSF)

Background. Patients with Shwachman syndrome have neutropenia and depr essed neutrophil chemotaxis and are therefore susceptible to recurrent infections. The diversity of causative microbial agents makes prevent ion of infection difficult. Some may be life-threatening, despite anti biotic therapy and even leukocyte transfusion. Patient. A 15 day-old b oy presented with a staphylococcal cutanous abscess. Neutropenia was d etected when he was 45 day-old and Shwachman syndrome was diagnosed at the age of 8 months. He was then suffering from pneumonia plus pancre atic insufficiency, metaphysical chondroplasia and short stature. Freq uent infections continued through childhood, but became less frequent from the age of 11 years. At 17 years, he still had neutropenia (polym orphonuclear leukocytes less than 300/mm3) and profound depressed chem otaxis. He was given subcutaneous injections of recombinant human gran ulocytes colony stimulating factor (rhG-CSF), 1 mug/kg/day, for 15 day s. The polymorphonuclear count increased above 1000/mm3 during the sec ond week of treatment, and this effect was seen again during a second course of rhG-CSF. The benefit was not sustained when treatment was di scontinued. Conclusion. These results confirm earlier reports of the e ffect of 5 mu/kg/day of rhG-CSF but the responses were greater and ear lier. While more precise information concerning the treatment of this disease is required, rhG-CSF can be useful in patients with severe inf ections.