-
Je něco špatně v tomto záznamu ?
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency
A. Čechová, T. Honzík, AC. Edmondson, C. Ficicioglu, M. Serrano, R. Barone, P. De Lonlay, M. Schiff, P. Witters, C. Lam, M. Patterson, MCH. Janssen, J. Correia, D. Quelhas, J. Sykut-Cegielska, H. Plotkin, E. Morava, K. Sarafoglou
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, pozorovací studie, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
U54 NS115198
NINDS NIH HHS - United States
- MeSH
- adrenální insuficience diagnóza etiologie patofyziologie MeSH
- dítě MeSH
- dospělí MeSH
- fosfotransferasy (fosfomutasy) krev genetika MeSH
- glykosylace MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- prospektivní studie MeSH
- rizikové faktory MeSH
- systém hypofýza - nadledviny fyziologie MeSH
- vrozené poruchy glykosylace MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.
Center for Integrative Brain Research Seattle Children's Research Institute Seattle WA 98101 USA
Centro Hospitalar Universitário do Porto Porto Portugal
Department of Clinical Genomics Department of Laboratory Medicine and Pathology Mayo Clinic MN USA
Department of Pediatrics University of Nebraska Medical Center Omaha NE USA
Division of Human Genetics Department of Pediatrics Children's Hospital of Philadelphia USA
Glycomine Inc San Francisco CA USA
Inserm UMR_S1163 Institut Imagine Paris France
Radboud University Medical Centre Department of Internal Medicine Nijmegen the Netherlands
U 703 Centre for Biomedical Research on Rare Diseases Instituto de Salud Carlos 3 Spain
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22012328
- 003
- CZ-PrNML
- 005
- 20220506130317.0
- 007
- ta
- 008
- 220425s2021 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.ymgme.2021.06.003 $2 doi
- 035 __
- $a (PubMed)34140212
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Čechová, Anna $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
- 245 10
- $a Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency / $c A. Čechová, T. Honzík, AC. Edmondson, C. Ficicioglu, M. Serrano, R. Barone, P. De Lonlay, M. Schiff, P. Witters, C. Lam, M. Patterson, MCH. Janssen, J. Correia, D. Quelhas, J. Sykut-Cegielska, H. Plotkin, E. Morava, K. Sarafoglou
- 520 9_
- $a PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG (ClinicalTrials.gov Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a adrenální insuficience $x diagnóza $x etiologie $x patofyziologie $7 D000309
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a vrozené poruchy glykosylace $7 D018981
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a glykosylace $7 D006031
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a kojenec $7 D007223
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a fosfotransferasy (fosfomutasy) $x krev $x genetika $7 D017875
- 650 _2
- $a systém hypofýza - nadledviny $x fyziologie $7 D010913
- 650 _2
- $a prospektivní studie $7 D011446
- 650 _2
- $a rizikové faktory $7 D012307
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a pozorovací studie $7 D064888
- 655 _2
- $a Research Support, N.I.H., Extramural $7 D052061
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Honzík, Tomáš $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
- 700 1_
- $a Edmondson, Andrew C $u Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA
- 700 1_
- $a Ficicioglu, Can $u Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, USA
- 700 1_
- $a Serrano, Mercedes $u Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain
- 700 1_
- $a Barone, Rita $u Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
- 700 1_
- $a De Lonlay, Pascale $u Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, University of Paris, Paris, France; Inserm UMR_S1163, Institut Imagine, Paris, France
- 700 1_
- $a Schiff, Manuel $u Necker Hospital, APHP, Reference Center for Inborn Errors of Metabolism, University of Paris, Paris, France
- 700 1_
- $a Witters, Peter $u Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
- 700 1_
- $a Lam, Christina $u Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
- 700 1_
- $a Patterson, Marc $u Department of Clinical Genomics-Department of Laboratory Medicine and Pathology, Mayo Clinic, MN, USA
- 700 1_
- $a Janssen, Mirian C H $u Radboud University Medical Centre, Department of Internal Medicine, Nijmegen, the Netherlands
- 700 1_
- $a Correia, Joana $u Centro Hospitalar Universitário do Porto, Porto, Portugal
- 700 1_
- $a Quelhas, Dulce $u Centro Hospitalar Universitário do Porto, Porto, Portugal
- 700 1_
- $a Sykut-Cegielska, Jolanta $u Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland
- 700 1_
- $a Plotkin, Horacio $u Glycomine, Inc, San Francisco, CA, USA; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA. Electronic address: hplotkin@glycomine.com
- 700 1_
- $a Morava, Eva $u Department of Clinical Genomics-Department of Laboratory Medicine and Pathology, Mayo Clinic, MN, USA. Electronic address: morava-kozicz.eva@mayo.edu
- 700 1_
- $a Sarafoglou, Kyriakie $u Dept. of Pediatrics - Divisions of Endocrinology and Genetics & Metabolism, Dept. of Experimental & Clinical Pharmacology, University of Minnesota, USA
- 773 0_
- $w MED00006573 $t Molecular genetics and metabolism $x 1096-7206 $g Roč. 133, č. 4 (2021), s. 397-399
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/34140212 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220425 $b ABA008
- 991 __
- $a 20220506130310 $b ABA008
- 999 __
- $a ok $b bmc $g 1789775 $s 1163529
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 133 $c 4 $d 397-399 $e 20210611 $i 1096-7206 $m Molecular genetics and metabolism $n Mol Genet Metab $x MED00006573
- GRA __
- $a U54 NS115198 $p NINDS NIH HHS $2 United States
- LZP __
- $a Pubmed-20220425
