Table 1 Reported cases of GSD treated with sirolimus (rapamycin)
Author | Gender | Agea | Nationality | Therapy | Sirolimus Dose | Manifestation | Follow up after treatment | Outcome |
|---|---|---|---|---|---|---|---|---|
Cramer et al. [5] | male | 18 yrs | U.S | Sirolimus zoledronic acid thoracoscopic surgery | Titrated to 9-12 mg/L, twice daily | intractable pleural effusion, and multiple rib fractures | 18 mos | effusion improved and no further skeletal fracture |
Araujo et al. [6] | male | 5 yrs | Brazil | Sirolimus Interferon | 1 mg/twice daily | ribs and sternum lesions and haemothorax | 8 mos | pulmonary parenchyma normal and good bone remodelling |
Garcia et al. [7] | female | 43 yrs | Spain | Sirolimus Surgery | Titrated to 4-10 mg/L, twice daily | pleural effusion, abdominal mass, rib | 2 mos | symptoms vanish |
Mohammad et al. [8] | male | 12 yrs | Malaysia | Sirolimus | NA | right chylothorax, right clavicle, humerus and ulna osteolysis | NA | responded well |
Mohammad et al. [8] | male | 8 yrs | Malaysia | Sirolimus | NA | cervical and thoracic spine lytic bone lesion and massive left pleural effusion | 3 mos | responded poorly |
Colin et al. [9] | female | 3 yrs | Mexico | Sirolimus | 0.05 mg/kg/d | right femur, skull osteolysis, left femur pathologic fracture | NA | control of the disease with no pain |
Cakir et al. [10] | female | 2 yrs | Turkey | Sirolimus | NA | right sided pleural effusion, ribs and thoracic and lumbar vertebral lytic lesions | 14 mos | symptoms and signs vanish |
Wei et al. [11] | female | 17 yrs | U.S | Sirolimus | NA | right femur pathological fracture | 7 mos | symptoms and signs vanish |
Hall et al. [12] | female | 10 yrs | U.S | Sirolimus | NA | right 9th rib osteolysis | 24 mos | controlled |
Gordon et al. [13] | female | 13 yrs | Britain | Sirolimus | Titrated to 10-15 mg/L, twice daily | multiple vertebral body and pelvic osteolysis | NA | chylous leakage ceased, pain remission, and no further bone destruction |
Mo et al. [14] | male | 14 yrs | U.S | Sirolimus | Titrated to 7–13 mg/L, twice daily | thoracic spine and rib osteolysis | 26 mos | symptoms and signs vanish |
Wang et al. [3] | female | 3 yrs | China | Sirolimus | Titrated to 10-15 mg/L, twice daily | humerus and scapula osteolysis and resorption in clavicle. right-sided pleural effusion | 13 mos | The mass shrank and discolored skin lessened |
Nozawa et al. [15] | male | 27 yrs | Japan | Sirolimus+ radiotherapy+ bisphosphonates | 2 mg/day | extraosseous soft-tissue mass; multiple osteolysis | 6 mos | responded poorly |
Suero et al. [16] | male | 26 yrs | Germany | Sirolimus+ thoracoscopic pleurodesis | NA | compression fracture of the vertebrae and pleural effusion | 48 mos | Recurrence (30 months after withdrawal) |
Cho et al. [17] | female | 11 yrs | Korea | Sirolimus+ propranolol | Titrated to 9-12 mg/L, twice daily | right clavicle and 1st rib osteolytic cortical resorption and chyle leakage | 24 mos | symptoms are well-controlled |
Present case | male | 1 yr | China | Sirolimus+ thoracoscopic surgery | Titrated to 7–13 mg/L, twice daily | clavicle resorption. right-sided pleural effusion and right femur fracture | 26 mos | symptoms and signs vanish |