Late-onset Pompe's disease in a hemodialysis patient: A first case report

Eleftheriadis T., Makri P., Karakosta P., Pissas G., Liakopoulos V., Michelakakis H., Hadjigeorgiou G.M., Stefanidis I.

dc.creator	Eleftheriadis T., Makri P., Karakosta P., Pissas G., Liakopoulos V., Michelakakis H., Hadjigeorgiou G.M., Stefanidis I.	en
dc.date.accessioned	2023-01-31T07:37:12Z
dc.date.available	2023-01-31T07:37:12Z
dc.date.issued	2018
dc.identifier	10.1111/hdi.12617
dc.identifier.issn	14927535
dc.identifier.uri	http://hdl.handle.net/11615/71312
dc.description.abstract	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	en
dc.language.iso	en	en
dc.source	Hemodialysis International	en
dc.source.uri	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85045083415&doi=10.1111%2fhdi.12617&partnerID=40&md5=de013cae48514770a00637d6f6dcd1ed
dc.subject	alpha glucosidase	en
dc.subject	creatine kinase	en
dc.subject	recombinant glucan 1,4 alpha glucosidase	en
dc.subject	adult	en
dc.subject	Article	en
dc.subject	bilevel positive airway pressure	en
dc.subject	blood gas analysis	en
dc.subject	case report	en
dc.subject	clinical article	en
dc.subject	creatine kinase blood level	en
dc.subject	disease association	en
dc.subject	electronic medical record	en
dc.subject	end stage renal disease	en
dc.subject	enzyme activity	en
dc.subject	enzyme replacement	en
dc.subject	forced expiratory volume	en
dc.subject	forced vital capacity	en
dc.subject	genetic analysis	en
dc.subject	glycogen storage disease type 2	en
dc.subject	hemodiafiltration	en
dc.subject	hemodialysis	en
dc.subject	heterozygote	en
dc.subject	hospital discharge	en
dc.subject	human	en
dc.subject	hypertension	en
dc.subject	immunoglobulin A nephropathy	en
dc.subject	late onset Pompe disease	en
dc.subject	lordosis	en
dc.subject	male	en
dc.subject	myopathy	en
dc.subject	nerve conduction	en
dc.subject	noninvasive ventilation	en
dc.subject	physical examination	en
dc.subject	polymerase chain reaction	en
dc.subject	positive end expiratory pressure	en
dc.subject	primary biliary cirrhosis	en
dc.subject	respiratory failure	en
dc.subject	spirometry	en
dc.subject	stenosis	en
dc.subject	glycogen storage disease type 2	en
dc.subject	hemodialysis	en
dc.subject	pathology	en
dc.subject	Adult	en
dc.subject	Glycogen Storage Disease Type II	en
dc.subject	Humans	en
dc.subject	Male	en
dc.subject	Renal Dialysis	en
dc.subject	Blackwell Publishing Inc.	en
dc.title	Late-onset Pompe's disease in a hemodialysis patient: A first case report	en
dc.type	journalArticle	en

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