Multidisciplinary management of pregnancy and labour in a patient with glycogen storage disease type 1a

被引:1
|
作者
Jones, Alice May [1 ]
Tower, Clare [2 ,3 ]
Green, Diane [4 ]
Stepien, Karolina M. [5 ,6 ]
机构
[1] Tameside Hosp NHS Fdn Trust, Ashton Under Lyne, England
[2] Manchester Univ NHS Fdn Trust, Manchester, England
[3] Manchester Acad Hlth Sci Ctr, Manchester, England
[4] Salford Royal NHS Fdn Trust, Salford, Lancs, England
[5] Salford Royal NHS Fdn Trust, Inherited Metab Dis, Salford, Lancs, England
[6] Univ Manchester, Div Diabet Endocrinol & Gastroenterol, Manchester, Lancs, England
关键词
obstetrics; gynaecology and fertility; metabolic disorders; pregnancy; materno-fetal medicine; WOMEN; IA; METABOLISM;
D O I
10.1136/bcr-2020-241161
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Glycogen storage disease type 1a (GSD 1a) is a metabolic disorder caused by deficiency of an enzyme required for glycogen breakdown, causing hypoglycaemia and lactic acidosis. Metabolic derangements cause disease manifestations affecting the kidneys, liver and platelet function. Physiological changes in pregnancy worsen fasting intolerance and increase reliance on exogenous glucose to avoid lactic acidosis. Fetal macrosomia and declining respiratory function result in high rates of caesarean sections. We report the multidisciplinary team (MDT) management of a 25-year-old woman with GSD 1a in an unplanned pregnancy. Existing percutaneous endoscopic gastrostomy tube feeding, alongside high-calorie drinks and intravenous dextrose during labour, managed the risks of hypoglycaemia and lactic acidosis. Metabolic parameters were regularly monitored and fortnightly growth scans were assessed for macrosomia. Allopurinol was continued throughout the pregnancy to reduce the risk of hyperuricaemia. MDT management optimised maternal and fetal care throughout pregnancy and labour, resulting in a successful vaginal delivery.
引用
收藏
页数:6
相关论文
共 50 条
  • [31] Case report: Hepatic adenoma with bone marrow metaplasia in a patient with glycogen storage disease type 1a
    Moriura, S
    Kuroda, M
    Kimura, A
    Iwatsuka, Y
    Ikeda, S
    Sakai, T
    Usui, A
    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 1996, 11 (06) : 556 - 559
  • [32] Is glycogen storage disease 1a associated with atherosclerosis?
    Froukje L. Ubels
    Jan Peter Rake
    Joris P. J. Slaets
    G. Peter A. Smit
    Andries J. Smit
    European Journal of Pediatrics, 2002, 161 (1) : S62 - S64
  • [33] Radical trapping in glycogen storage disease 1a
    Birgit Wittenstein
    Marcus Klein
    Barbara Finckh
    Kurt Ullrich
    Alfried Kohlschütter
    European Journal of Pediatrics, 2002, 161 : S70 - S74
  • [34] Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus
    Potter, M. A.
    Khan, A. A.
    Pelletier, H.
    van der Meulen, J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 123 - 123
  • [35] Radical trapping in glycogen storage disease 1a
    Wittenstein, B
    Klein, M
    Finckh, B
    Ullrich, K
    Kohlschütter, A
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (Suppl 1) : S70 - S74
  • [36] LATE DIAGNOSIS OF GLYCOGEN STORAGE DISEASE 1A
    Maillot, F.
    Deest, G.
    Bacq, Y.
    Labarthe, F.
    Scotto, B.
    Couet, C.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 41 - 42
  • [37] Is glycogen storage disease 1a associated with atherosclerosis?
    Ubels, FL
    Rake, JP
    Slaets, JPJ
    Smit, GPA
    Smit, AJ
    EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (Suppl 1) : S62 - S64
  • [38] Is glycogen storage disease 1a associated with atherosclerosis?
    Froukje L. Ubels
    Jan Rake
    Joris P. Slaets
    Peter G. Smit
    Andries J. Smit
    European Journal of Pediatrics, 2002, 161 : S62 - S64
  • [39] Radical trapping in glycogen storage disease 1a
    Birgit Wittenstein
    Marcus Klein
    Barbara Finckh
    Kurt Ullrich
    Alfried Kohlschütter
    European Journal of Pediatrics, 2002, 161 (1) : S70 - S74
  • [40] Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1A (von Gierke disease)
    Gossmann, J
    Scheuermann, EH
    Frilling, A
    Geiger, H
    Dietrich, CF
    TRANSPLANTATION, 2001, 72 (02) : 343 - 344