Abstract:
:The association of fetal hydrops with Congenital Disorders of Glycosylation (CDG) has been reported previously. Pericardial fluid accumulation and ascites were also observed in a few young patients with CDG type Ia. Here we describe the clinical and biochemical features in three children developing life-threatening extravascular fluid accumulation. All patients carried severe PMM2 mutations comparable to the earlier reported patients with fetal hydrops. One patient was successfully treated with a pericardial-pleural shunt placement. Pericardial fluid accumulation and generalized oedema resolved temporarily in the other two children on regular albumin infusions and the use of diuretics. Sequential abdominal punctures were unsuccessful in the treatment of the extensive ascites production. The use of non-steroid anti-inflammatory agents and the application of high dose steroids had no clinical effect. Severe extravascular fluid accumulation progressed to decompensation and death. Biochemical investigations of the abdominal fluid and pericardial fluid demonstrated a high extracellular protein concentration, increased cytokine concentrations and an abnormal transferrin isoelectric focusing pattern characteristic of CDG type I. Our results are consistent with a local activation of the cytokine pathways and subsequent protein transport through the endothelial surface to the extravascular space. Normal glycosylation of cell surface proteins is essential for the normal fluid balance and protein transport through the pericardial and peritoneal membrane. Future therapeutic efforts should be directed to inhibit the abnormal immune response and excessive protein transport in this life-threatening complication of CDG syndrome.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Truin G,Guillard M,Lefeber DJ,Sykut-Cegielska J,Adamowicz M,Hoppenreijs E,Sengers RC,Wevers RA,Morava Edoi
10.1016/j.ymgme.2008.05.005subject
Has Abstractpub_date
2008-08-01 00:00:00pages
481-4issue
4eissn
1096-7192issn
1096-7206pii
S1096-7192(08)00148-0journal_volume
94pub_type
杂志文章abstract::The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize anim...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1016/j.ymgme.2013.07.016
更新日期:2014-02-01 00:00:00
abstract::Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so fa...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2007.09.010
更新日期:2008-02-01 00:00:00
abstract::The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/s1096-7192(02)00100-2
更新日期:2002-08-01 00:00:00
abstract::Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative i...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1016/j.ymgme.2011.06.020
更新日期:2011-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2020.02.004
更新日期:2020-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1016/j.ymgme.2013.12.005
更新日期:2014-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.1999.2958
更新日期:2000-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2016.12.006
更新日期:2017-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2001.3184
更新日期:2001-06-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2009.02.006
更新日期:2009-06-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2005.06.010
更新日期:2006-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2013.10.017
更新日期:2014-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.08.020
更新日期:2011-12-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1006/mgme.1999.2808
更新日期:1999-04-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2015-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2006.12.006
更新日期:2007-04-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2012.01.015
更新日期:2012-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2008.03.017
更新日期:2008-07-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1016/j.ymgme.2012.08.003
更新日期:2012-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/s1096-7192(03)00071-4
更新日期:2003-06-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2008.03.013
更新日期:2008-07-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.1998.2764
更新日期:1998-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2003.12.007
更新日期:2004-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.01.011
更新日期:2011-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.05.009
更新日期:2011-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2008.10.012
更新日期:2009-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.09.020
更新日期:2011-12-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2010.05.009
更新日期:2010-09-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2000.3088
更新日期:2000-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2010.09.012
更新日期:2010-12-01 00:00:00