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fractures and vertebral collapse in elderly. The low-grade metabolic acidosis owing to
hyperlacticacidemia and renal loss of calcium presumably contributes to the decreased bone
mineralisation. There seems to be a trend to a decrease in bone mineral density in prepubertal
patiënts during follow-up. Optimal metabolic control, adequate intake of calcium and vitamin D,
and prevention/treatment of chronic lactaemia decreases this risk. Monitoring bone density by
DEXA-scanning is recommended.
2,5,8
-
Gouty arthritis arises, usually after puberty, from long-term hyperurecemia. This can be
prevented by the use of Allopurinol, since this reduce the level of uric acid.
2,3
Abdominal pain
In case of acute abdominal pain other causes such as polycystic ovaries, liver adenoma and
pancreatitis should be investigated. Hence a CT-scan and laboratory research are indicated.
1,5
Complications in GSD 1b
-
Gastro-intestinal problems. More than 75% of the GSD 1b patiënts show symptoms of
inflammatory bowel disease (IBD), including oral and perianal infections and protracted diarrhoea.
Faecal alpha-1-antitrypsine is a good marker for the degree of IBD activity. During episodes of
severe IBD immunosuppressive medication or G-CSF can be given.
1,2,4
-
Immunodeficiency. Most patiënts with GSD 1b develop neutropenia and show neutrophil
dysfunction before the age of 1 year. They suffer of frequent and severe infections which can
affect the upper and lower respiratory tract, the skin, the urinary tract, or result in deep abscesses.
In case of severe infections prophylactic antibiotics or G-CSF can be given.
1,3,4
-
Splenomegaly occurs in about 35% of the patiënts with GSD 1b. This is probably due to
extramedullary haematopoiesis and possibly a result of frequent infections.
Monitoring of spleen size, by ultrasonography once a year, is recommend.
4
6.1
Reference List
1.
Smit GPA, Rake JP, Akman HO, DiMauro S. The Glycogen Storage Diseases and Related
Disorders. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn Metabolic
Diseases. Diagnosis and Treatment. 4th revised ed. Wurzburg, Germany: Springer; 2006. 101-119.
2.
Kishnani PS, Koeberl D, Chen YT. Glycogen Storage Disaeses. In: Valle D, Beaudet AL,
Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, editors. Scriver's Metabolic and Molecular
Bases of Inherited Disease Online.
http://www.ommbid.com
ed. New York: McGraw-Hill; 2011.
3.
Bali DS, Chen YT, Goldstein JL. Glycogen Storage Disease Type I. In: Pagon RA, Bird TD,
Dolan CR, Stephens K, editors. GeneReview [Internet]. Seattle: University of Washington; 2006.
4.
Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. Consensus guidelines for
management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease
Type 1. Eur J Pediatr. 2002;161 Suppl 1:S120-S123.
5.
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Guidelines for management of
glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD 1).
Eur J Pediatr. 2002;161 Suppl 1:S112-S119.
6.
Martens DH, Rake JP, Navis G, Fidler V, van Dael CM, Smit GP. Renal function in glycogen
storage disease type I, natural course, and renopreservative effects of ACE inhibition. Clin J Am Soc
Nephrol. 2009;4:1741-1746.
7.
Martens DH, Rake JP, Schwarz M, Ullrich K, Weinstein DA, Merkel M, et al. Pregnancies in
glycogen storage disease type Ia. Am J Obstet Gynecol. 2008;198:646-647.
8.
Rake JP, Visser G, Huismans D, Huitema S, van d, V, Piers DA, et al. Bone mineral density in
children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and
longitudinal study. J Inherit Metab Dis. 2003;26:371-384.