The natural history of glycogen storage disease type Ib in England: A multisite survey

Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9.1 y...

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Vydané v:JIMD reports Ročník 59; číslo 1; s. 52 - 59
Hlavní autori: Halligan, Rebecca, White, Fiona J., Schwahn, Bernd, Stepien, Karolina M., Kamarus Jaman, Nazreen, McSweeney, Mel, Kitchen, Steve, Gribben, Joanna, Dawson, Charlotte, Lewis, Katherine, Cregeen, David, Mundy, Helen, Santra, Saikat
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Hoboken, USA John Wiley & Sons, Inc 01.05.2021
Wiley
Predmet:
1,5‐anhydroglucitol‐6‐phosphate
Adults
Age groups
Anemia
Creatinine
Enzymes
Ethnicity
genotype
Genotype & phenotype
Glucose
glycogen storage disease type Ib
Growth hormones
Infections
Inflammatory bowel disease
liver transplantation
Metabolism
Mutation
neutropaenia
neutrophil dysfunction
Neutrophils
Ostomy
Patients
Pediatrics
Research Report
Research Reports
Transplants & implants
Ultrasonic imaging
United Kingdom > UK
England
glycogen storage disease type Ib
neutropaenia
1,5‐anhydroglucitol‐6‐phosphate
neutrophil dysfunction
liver transplantation
genotype
ISSN:2192-8312, 2192-8304, 2192-8312
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Popis
Shrnutí:Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England. A total of 35 patients, with a median age of 9.1 years (range 1‐39 years), were included in the study. We examined the genotype and phenotype of all patients and reported 14 novel alleles. The phenotype of GSDIb in England involves a short fasting tolerance that extends into adulthood and a high prevalence of gastrointestinal symptoms. Growth is difficult to manage and neutropaenia and recurrent infections persist throughout life. Liver transplantation was performed in nine patients, which normalized fasting tolerance but did not correct neutropaenia. This is the first natural history study on the cohort of GSDIb patients in England.
Bibliografia:Peter Witters
Communicating Editor
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Communicating Editor: Peter Witters
ISSN:2192-8312
2192-8304
2192-8312
DOI:10.1002/jmd2.12200