Inflammatory bowel disease in glycogen storage disease type 1 B

1995 ◽  
Vol 25 (S1) ◽  
pp. S160-S162 ◽  
Author(s):  
H. Schulman ◽  
Z. Weizman ◽  
Y. Barki ◽  
E. Maor ◽  
Y. Hertzanu
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Inflammatory Bowel

Inflammatory Bowel Disease in Glycogen Storage Disease Type Ia

2017 ◽  
Vol 64 (2) ◽  
pp. e52-e54 ◽  
Author(s):  
Nicole T. Lawrence ◽  
Tayoot Chengsupanimit ◽  
Laurie M. Brown ◽  
Terry G.J. Derks ◽  
G. Peter A. Smit ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ia ◽  
Inflammatory Bowel

Inflammatory bowel disease in glycogen storage disease type Ib

1986 ◽  
Vol 109 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Thomas F. Roe ◽  
Daniel W. Thomas ◽  
Vicente Gilsanz ◽  
Hart Isaacs ◽  
James B. Atkinson
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Inflammatory Bowel

scholarly journals LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE

2021 ◽  
Vol 58 (1) ◽  
pp. 87-92
Author(s):  
Marina Mayumi Vendrame TAKAO ◽  
Natascha Silva SANDY ◽  
Adriana Gut Lopes RICCETTO ◽  
Adriana Maria Alves DE TOMMASO
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Tertiary Center ◽  
Inflammatory Bowel

ABSTRACT BACKGROUND Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system.

Inflammatory Bowel Disease-Like Colitis in Glycogen Storage Disease Type 1b

2001 ◽  
Vol 7 (2) ◽  
pp. 128-132 ◽  
Author(s):  
Tomoko Yamaguchi ◽  
Kenji Ihara ◽  
Takayuki Matsumoto ◽  
Yasushi Tsutsumi ◽  
Akihiko Nomura ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Glycogen Storage Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Inflammatory Bowel

scholarly journals Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor

Blood ◽  
2020 ◽  
Vol 136 (9) ◽  
pp. 1033-1043 ◽  
Author(s):  
Saskia B. Wortmann ◽  
Johan L. K. Van Hove ◽  
Terry G. J. Derks ◽  
Nathalie Chevalier ◽  
Vijaya Knight ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Storage Disease ◽  
Sglt2 Inhibitor ◽  
Glycogen Storage Disease Type ◽  
Neutrophil Function ◽  
Glycogen Storage ◽  
Disease Type ◽  
Inflammatory Bowel ◽  
Neutrophil Dysfunction

Abstract Neutropenia and neutrophil dysfunction cause serious infections and inflammatory bowel disease in glycogen storage disease type Ib (GSD-Ib). Our discovery that accumulating 1,5-anhydroglucitol-6-phosphate (1,5AG6P) caused neutropenia in a glucose-6-phosphatase 3 (G6PC3)–deficient mouse model and in 2 rare diseases (GSD-Ib and G6PC3 deficiency) led us to repurpose the widely used antidiabetic drug empagliflozin, an inhibitor of the renal glucose cotransporter sodium glucose cotransporter 2 (SGLT2). Off-label use of empagliflozin in 4 GSD-Ib patients with incomplete response to granulocyte colony-stimulating factor (GCSF) treatment decreased serum 1,5AG and neutrophil 1,5AG6P levels within 1 month. Clinically, symptoms of frequent infections, mucosal lesions, and inflammatory bowel disease resolved, and no symptomatic hypoglycemia was observed. GCSF could be discontinued in 2 patients and tapered by 57% and 81%, respectively, in the other 2. The fluctuating neutrophil numbers in all patients were increased and stabilized. We further demonstrated improved neutrophil function: normal oxidative burst (in 3 of 3 patients tested), corrected protein glycosylation (2 of 2), and normal neutrophil chemotaxis (1 of 1), and bactericidal activity (1 of 1) under treatment. In summary, the glucose-lowering SGLT2 inhibitor empagliflozin, used for type 2 diabetes, was successfully repurposed for treating neutropenia and neutrophil dysfunction in the rare inherited metabolic disorder GSD-Ib without causing symptomatic hypoglycemia. We ascribe this to an improvement in neutrophil function resulting from the reduction of the intracellular concentration of 1,5AG6P.

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