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

Autor: Halligan R; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK.; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., White FJ; Willink Unit Manchester Childen's Hospital Manchester UK., Schwahn B; Willink Unit Manchester Childen's Hospital Manchester UK., Stepien KM; Adult Inherited Metabolic Medicine Salford Royal Hospital NHS Foundation Trust Salford UK., Kamarus Jaman N; Metabolic Medicine Department Great Ormond Street Hospital London UK., McSweeney M; Metabolic Medicine Department Great Ormond Street Hospital London UK., Kitchen S; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK., Gribben J; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Dawson C; Inherited Metabolic Diseases Queen Elizabeth Hospital Birmingham UK., Lewis K; Inherited Metabolic Diseases Guy's and St Thomas' NHS Foundation Trust London UK., Cregeen D; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Mundy H; Inherited Metabolic Diseases Evelina London Children's Hospital London UK., Santra S; Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2021 Jan 24; Vol. 59 (1), pp. 52-59. Date of Electronic Publication: 2021 Jan 24 (Print Publication: 2021).
DOI: 10.1002/jmd2.12200
Abstrakt: 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.
Competing Interests: Rebecca Halligan, Fiona White, Bernd Schwahn, Karolina Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy and Saikat Santra declare that they have no conflict of interest.
(© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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