UNLABELLED: Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient's infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised. CONCLUSION: Although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.
UNLABELLED: Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1bpatient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient's infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised. CONCLUSION: Although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.
Authors: S Kure; D C Hou; Y Suzuki; A Yamagishi; M Hiratsuka; T Fukuda; H Sugie; N Kondo; Y Matsubara; K Narisawa Journal: J Pediatr Date: 2000-08 Impact factor: 4.406
Authors: A López-Sanromán; P Martín-Vaquero; E Molina-Pérez; R Bárcena; E Vicente; L F Pallardo-Sánchez Journal: Clin Nutr Date: 2001-08 Impact factor: 7.324
Authors: B W Weston; J L Lin; J Muenzer; H S Cameron; R R Arnold; H H Seydewitz; E Mayatepek; E Van Schaftingen; M Veiga-da-Cunha; D Matern; Y T Chen Journal: Pediatr Res Date: 2000-09 Impact factor: 3.756
Authors: T E Starzl; A J Demetris; M Trucco; C Ricordi; S Ildstad; P I Terasaki; N Murase; R S Kendall; M Kocova; W A Rudert Journal: N Engl J Med Date: 1993-03-18 Impact factor: 91.245
Authors: K J Lei; Y T Chen; H Chen; L J Wong; J L Liu; A McConkie-Rosell; J L Van Hove; H C Ou; N J Yeh; L Y Pan Journal: Am J Hum Genet Date: 1995-10 Impact factor: 11.025
Authors: Gepke Visser; Wilco de Jager; Liesbeth P Verhagen; G Peter A Smit; Frits A Wijburg; Berent J Prakken; Paul J Coffer; Miranda Buitenhuis Journal: J Inherit Metab Dis Date: 2011-08-24 Impact factor: 4.982
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