LONG-TERM TREATMENT OF GLYCOGEN STORAGE DISEASE TYPE Ib |[lpar]|GSD Ib|[rpar]| WITH GRANULOCYTE MACROPHAGE COLONY-STIMULATING FACTOR |[lpar]|GM|[sol]|CSF|[rpar]|

RhGM/CSF (Sehering Plough, Milan) was administered to two patients (7 yrs and 12 yrs respectively) with GSD lb with histories of frequent bacterial infections, and perineal abscesses. These episodes occurred despite continues prophylactic treatment with trimethoprim-sulfamethoxyazole. During two year treatment only patient C.P. had 2 slight episodes of stomatitis, following virus-induced bronchitis. Both patients had no clinical side effects, except for pomphoyd hyperemic areas around the injection sites at the 3th week of therapy all through 3 days. Laboratory investigations. Absolute neutrophyl counts (ANC) in patient C.P. ranged from 100 to 650 mm3. Bone marrow aspirates showed maturation delay of white cells series. He began treatment with GM CSF, 5 ug/Kg/day and the ANC increased to 4200 mm3 in I day and 9150 mm3 in 10 days. Over the past two year the dose was lowered to 3 ug/kg/day. This median ANC has been 2670 mm3 (range 1200-4800) and H2O2 production and granulocyte chemotaxis improved (from 77 to 138). In patient A.A. treatment with GM-CSF (6 ug/kg/day) induced a rapid increase in ANC from less than 370 to 1960 mm3 within 2 days. At dose of 5 ug/kg/day his median ANC has been 2600 mm3 (range 1200-3150); H2O2 production and granulocyte chemotaxis were never modified. After two years therapy we assume that GM-CSF is effective and indicate in patients with GSD lb. The high cost of GM-CSF and the rapid decreased of ANC after discontinuation of the therapy (1 day) has to be anyway evaluated.