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  • Επιστημονικές Δημοσιεύσεις Μελών ΠΘ (ΕΔΠΘ)
  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ.
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Late-onset Pompe's disease in a hemodialysis patient: A first case report

Thumbnail
Συγγραφέας
Eleftheriadis T., Makri P., Karakosta P., Pissas G., Liakopoulos V., Michelakakis H., Hadjigeorgiou G.M., Stefanidis I.
Ημερομηνία
2018
Γλώσσα
en
DOI
10.1111/hdi.12617
Λέξη-κλειδί
alpha glucosidase
creatine kinase
recombinant glucan 1,4 alpha glucosidase
adult
Article
bilevel positive airway pressure
blood gas analysis
case report
clinical article
creatine kinase blood level
disease association
electronic medical record
end stage renal disease
enzyme activity
enzyme replacement
forced expiratory volume
forced vital capacity
genetic analysis
glycogen storage disease type 2
hemodiafiltration
hemodialysis
heterozygote
hospital discharge
human
hypertension
immunoglobulin A nephropathy
late onset Pompe disease
lordosis
male
myopathy
nerve conduction
noninvasive ventilation
physical examination
polymerase chain reaction
positive end expiratory pressure
primary biliary cirrhosis
respiratory failure
spirometry
stenosis
glycogen storage disease type 2
hemodialysis
pathology
Adult
Glycogen Storage Disease Type II
Humans
Male
Renal Dialysis
Blackwell Publishing Inc.
Εμφάνιση Μεταδεδομένων
Επιτομή
A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After exclusion of other causes of restrictive lung disease with chest CT-scan and cerebrum MRI, electrophysiological study revealed myopathy. Because besides lordosis and limb-girdle gait the patient was ambulant the possibility of late-onset Pompe's disease was set and confirmed with evaluation of α-glucosidase activity and genetic analysis. Enzyme replacement therapy (ERT) with aglucosidase alfa was started. Due to inaccessibility of veins in the arm without the arteriovenous fistula, during the last 1 year, the patient received the ERT through the venous line of the hemodialysis circuit. Three years later the patient remains ambulant without the need of any assistant device and preserved his pulmonary function. This is the first described case of late-onset Pompe's disease in a hemodialysis patient treated with ERT. © 2017 International Society for Hemodialysis
URI
http://hdl.handle.net/11615/71312
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  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [19735]

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    SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19 

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    Common manifestations of COVID-19 are respiratory and can extend from mild symptoms to severe acute respiratory distress. The severity of the illness can also extend from mild disease to life-threatening acute respiratory ...
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