[Treatment of neutropenia in Shwachman's syndrome with granulocyte growth factor (G-CSF)]

Patients with Shwachman syndrome have neutropenia and depressed neutrophil chemotaxis and are therefore susceptible to recurrent infections. The diversity of causative microbial agents makes prevention of infection difficult. Some may be life-threatening, despite antibiotic therapy and even leukocyte transfusion.

A 15 day-old boy presented with a staphylococcal cutaneous abscess. Neutropenia was detected when he was 45 day-old and Shwachman syndrome was diagnosed at the age of 8 months. He was then suffering from pneumonia plus pancreatic insufficiency, metaphysical chondroplasia and short stature. Frequent infections continued through childhood, but became less frequent from the age of 11 years. At 17 years, he still had neutropenia (polymorphonuclear leukocytes less than 300/mm3) and profound depressed chemotaxis. He was given subcutaneous injections of recombinant human granulocytes colony stimulating factor (rhG-CSF), 1 microgram/kg/day, for 15 days. The polymorphonuclear count increased above 1000/mm3 during the second week of treatment, and this effect was seen again during a second course of rhG-CSF. The benefit was not sustained when treatment was discontinued.

These results confirm earlier reports of the effect of 5 micrograms/kg/day of rhG-CSF but the responses were greater and earlier. While more precise information concerning the treatment of this disease is required, rhG-CSF can be useful in patients with severe infections.