| Autor: |
Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
JIMD Reports, Vol 59, Iss 1, Pp 52-59 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2192-8312 |
| DOI: |
10.1002/jmd2.12200 |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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