TEN-YEAR EXPERIENCE IN TREATING ANDERSON-FABRY DISEASE AT THE DEPARTMENT OF NEUROLOGY, SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE

Autor: ZADRO MATOVINA, LUCIJA, JURAŠIĆ, MILJENKA-JELENA, ZAVOREO, IRIS, GRBIĆ, NEVENA, BAŠIĆ KES, VANJA
Jazyk: chorvatština
Rok vydání: 2018
Předmět:
Zdroj: Acta medica Croatica : Časopis Akademije medicinskih znanosti Hrvatske
Volume 72
Issue 3
ISSN: 1848-8897
1330-0164
Popis: Anderson Fabryjeva bolest je rijetka genetska bolest koja pokazuje X-vezano nasljeđivanje. U podlozi bolesti nalazi se lizosomski poremećaj koji obuhvaća smanjenu aktivnost odnosno odsutnost enzima alfa-galaktozidaze zbog mutacije gena GLA. Prevalencija se procjenjuje na oko 1 na 40 000 stanovnika. Bolest se manifestira predominantno u muškaraca. Posljedica nedostatka enzima alfa galaktozidaze je nakupljanje glikosfi ngolipida u lizosomima svih tkiva. U kliničkoj se slici najčešće uočavaju simptomi vezani uz moždani, srčani i bubrežni sustav. Neurološka prezentacija uključuje simptome moždanog udara, kao što su hemipareza, vrtoglavica, dizartrija, hemianopsija te gubitak osjeta. Srčane manifestacije uključuju hipertrofi ju lijevog ventrikla, smetnje provođenja, valvularnu insuficijenciju te srčane infarkte. Nefrološki znakovi uključuju proteinuriju te progresivno bubrežno zatajenje uz posljedični nastanak arterijske hipertenzije. Dijagnostika Fabryjeve bolesti obuhvaća laboratorijske pretrage urina te serumske razine globotriaozilceramida. Konačna dijagnoza postavlja se molekularnim genetskim testiranjem. Liječenje Anderson Fabryjeve bolesti moguće je primjenom jednog od dva enzima, algazidaze alfa i algazidaze beta čime se stabilizira i usporava progresiju Fabryjeve bolesti. Smatra se da bi u Hrvatskoj moglo biti oko 80 bolesnika koji boluju od Anderson Fabryjeve bolesti, ali stvarni podatci pokazuju nedovoljno prepoznavanje bolesti.
Introduction: Anderson-Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in vascular endothelium of several organs and in epithelial and smooth muscle cells. It is highly suspected in patients with signs and symptoms of a stroke along with previous skin lesions, renal insufficiency and cardiac symptoms. The diagnosis of Fabry disease has considerable implications regarding treatment, management, and counseling. The diagnosis and treatment of Fabry disease sometimes can be challenging. If the family history suggests a diagnosis of Fabry disease, genetic testing and counseling should be offered to all family members, regardless of their sex. Aim: Our aim was to present Anderson-Fabry disease and to give an inspection into our clinical experience with Anderson-Fabry patients in order to provide more information for physicians to reconsider and diagnose this rare disease. Methods: We performed MEDLINE search and also collected and analyzed information from hospitalization documents of our Anderson-Fabry patients. Results and Discussion: It is presumed that are about 80 patients with Anderson-Fabry disease in Croatia. However, the majority of them are still not recognized, not diagnosed or misdiagnosed. At Department of Neurology, Sestre milosrdnice University Hospital Centre, ten patients have been treated so far. Half of the patients were diagnosed before age 35 years. Most of the patients were admitted to hospital with symptoms of ischemic stroke. Also, during childhood or early adulthood, most of the patients had some symptoms that were underestimated and were not investigated. Currently, there are two treatment options available, both parenteral. A novel therapeutic, oral pharmacological chaperone, migalastat is being developed and will be available soon to our patients as the fi rst oral Fabry therapy. Conclusion: The goal of this article is to introduce physicians more closely in the symptoms, clinical features, diagnostic procedures and treatment options in Anderson-Fabry disease. Reconsidering Fabry disease is important for early diagnosis and early treatment initiation, which will lead to reducing serious complications of unrecognized and untreated disease. As it is a genetically inherited disorder, family tree also plays an important role in detecting the next generation of possible patients. Additional education of physicians should be performed in order to boost awareness of this rare but important disease, as it can be treated with replacement therapy.
Databáze: OpenAIRE
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