scholarly journals LONG-TERM TREATMENT OF GLYCOGEN STORAGE DISEASE TYPE Ib (GSD Ib) WITH GRANULOCYTE MACROPHAGE COLONY-STIMULATING FACTOR (GM/CSF)

1994 ◽  
Vol 35 (2) ◽  
pp. 283-283
Author(s):  
Alberto B Burlina ◽  
Andrea Bordugo ◽  
Elisa Piva ◽  
Rosalia Dariol ◽  
Franco Zacehello
Keyword(s):  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Term Treatment ◽  
Gm Csf ◽  
Long Term Treatment ◽  
Macrophage Colony Stimulating Factor ◽  
Macrophage Colony ◽  
Stimulating Factor

scholarly journals Clinical Analysis and Long-term Treatment Monitoring of 3 Patients with Glycogen Storage Disease Type Ib

2020 ◽  
Author(s):  
Caiqi Du ◽  
Zhuoguang Li ◽  
Hong Wei ◽  
Min Zhang ◽  
Minghui Hu ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Metabolic Disorders ◽  
Storage Disease ◽  
Liver Enzymes ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Term Treatment ◽  
Disease Type ◽  
Long Term Treatment

Abstract Background To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).Methods Retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum.Results After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C>T was the common variant and c. 680G>A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly elevated alanine-aminotransferase (ALT), accompanied by decreased absolute neutrophil count (ANC), hypertriglyceridemia, and metabolic disorders (hypoglycemia, hyperlactic acidemia, metabolic acidosis, etc.). After long-term treatment by oral uncooked cornstarch, the abnormal liver enzymes gradually returned to normal, and metabolic abnormalities were basically controlled most of the time. With increasing age, ANC of the 3 patients decreased progressively, whereas the times of infections was reduced.Conclusions The possibility of GSD type Ib should be kept on alert when a patient suffers recurrent infections, accompanied by hepatomegaly, elevated liver enzymes，hypoglycemia, dyslipidemia, and metabolic disorders. At present, the treatment of GSD Ib is mainly a comprehensive intervention based on diet therapy, and it is necessary to be alert to the occurrence of infectious immune diseases such as inflammatory bowel disease during follow-up.

scholarly journals Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Caiqi Du ◽  
Zhuoguang Li ◽  
Hong Wei ◽  
Min Zhang ◽  
Minghui Hu ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Metabolic Disorders ◽  
Storage Disease ◽  
Liver Enzymes ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Term Treatment ◽  
Disease Type ◽  
Long Term Treatment

Abstract Background To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib). Case presentation This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C > T was the common variant and c. 680G > A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly elevated alanine-aminotransferase (ALT), accompanied by decreased absolute neutrophil count (ANC), hypertriglyceridemia, and metabolic disorders (hypoglycemia, hyperlactic acidemia, metabolic acidosis, etc.). After long-term treatment by oral uncooked cornstarch, the abnormal liver enzymes gradually returned to normal, and metabolic abnormalities were basically controlled most of the time. With increasing age, ANC of 2 patients decreased progressively, whereas the times of infections was reduced. Conclusions We reported 3 cases with GSD Ib and a novel SLC37A4 variant. The possibility of GSD type Ib should be kept on alert when a patient suffers recurrent infections, accompanied by hepatomegaly, elevated liver enzymes, hypoglycemia, dyslipidemia, and metabolic disorders.

scholarly journals Differential and synergistic effects of human granulocyte-macrophage colony-stimulating factor and human granulocyte colony-stimulating factor on hematopoiesis in human long-term marrow cultures

Blood ◽  
1991 ◽  
Vol 77 (3) ◽  
pp. 493-499 ◽  
Author(s):  
DE Hogge ◽  
JD Cashman ◽  
RK Humphries ◽  
CJ Eaves
Keyword(s):  
Growth Factors ◽  
Synergistic Effects ◽  
S Phase ◽  
Colony Stimulating Factor ◽  
Gm Csf ◽  
Single Addition ◽  
Macrophage Colony Stimulating Factor ◽  
Macrophage Colony ◽  
Stimulating Factor

Abstract The ability of granulocyte-macrophage colony-stimulating factor (GM- CSF) and G-CSF to influence hematopoiesis in long-term cultures (LTC) of human marrow was studied by cocultivating light density normal human marrow cells with human marrow fibroblast feeders engineered by retroviral infection to constitutively produce one of these growth factors. Feeders producing stable levels of 4 ng/mL GM-CSF or 20 ng/mL G-CSF doubled the output of mature nonadherent cells. The numbers of both colony forming unit-GM (CFU-GM) and erythroid burst forming unit (BFU-E) in the G-CSF LTC were also increased (twofold and fourfold, respectively, after 5 weeks in culture), but this effect was not seen with the GM-CSF feeders. At the time of the weekly half medium change 3H-thymidine suicide assays showed primitive adherent layer progenitors in LTC to be quiescent in both the control and GM-CSF cultures. In contrast, in the G-CSF cultures, a high proportion of primitive progenitors were in S-phase. A single addition of either recombinant GM- CSF or G-CSF to LTC in doses as high as 80 ng/mL and 150 ng/mL, respectively, failed to induce primitive progenitor cycling. However, three sequential daily additions of 150 ng/mL G-CSF did stimulate primitive progenitors to enter S-phase and a single addition of 5 or 12.5 ng/mL of G-CSF together with 10 ng/mL GM-CSF was able to elicit the same effect. Thus, selective elevation of G-CSF in human LTC stimulates proliferation of primitive clonogenic progenitors, which may then proceed through to the terminal stages of granulopoiesis. In contrast, the effects of GM-CSF in this system appear limited to terminally differentiating granulopoietic cells. However, when both GM- CSF and G-CSF are provided together, otherwise biologically inactive doses show strong stimulatory activity. These findings suggest that the production of both of these growth factors by normal stromal cells may contribute to the support and proliferation of hematopoietic cells, not only in LTC, but also in the microenvironment of the marrow in vivo.

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