Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

arslan, nur; ATEŞOĞLU, Merve; TEKE KISA, PELIN; Kose, Engin

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Pelin Teke KISA, (Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, İzmir, Turkey)

Engin KÖSE, (Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, İzmir, Turkey)

Merve ATEŞOĞLU, (Dokuz Eylül University Faculty of Medicine, Department of General Pediatrics, İzmir, Turkey)

Nur ARSLAN (Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, İzmir, Turkey)

The Journal of Pediatric Research

1 0

Yıl: 2017 Cilt: 4 Sayı: 2 Sayfa Aralığı: 59 - 62 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

Öz:

Amaç: Mukopolisakkaridozlar (MPS) glikozaminoglikanların yıkımında görev alan spesifik lizozomal enzimlerin eksikliği sonucu görülen bir grup lizozomal depo hastalıklarıdır. Kaba yüz, organomegali, kemik hastalığı (disostoz multipleks) ve merkezi sinir sistemi bulguları görülen hastalarda MPS hastalığı akla gelmelidir. MPS hastalığında erken tanı ve tedavi prognozda önemlidir. Bu çalışmanın amacı MPS tanısıyla takip edilen hastalarımızın klinik ve demografik verilerinin araştırılmasıdır. Gereç ve Yöntemler: Bu çalışmada 27 MPS'li hastanın demografik ve klinik özellikleri retrospektif olarak kaydedildi.Bulgular: Hastaların yaş ortalaması 112,3±52,5 ay (36-196 ay), semptomların başlama yaşı ortalama 40,8±30,6 ay idi (4-112 ay). Semptom başlangıcından tanıya kadar geçen süre ortalama 16,3±21,4 ay idi. Hastaların 13'ü (%48) MPS Tip III, yedisi (%26) MPS Tip II, dördü (%15) MPS Tip VI, ikisi (%7) MPS Tip I ve biri (%4) MPS Tip IV tanısı almışlardı. Dokuz (%33,3) hastaya enzim replasman tedavisi (ERT) başlandı. Ortalama ERT süresi 31,3±21,5 ay idi. Sonuç: Çalışmamızda en sık görülen MPS alt grubu MPS Tip III olarak bulundu. Çalışmamızda hastaların semptomlarının başlangıcından tanı konulmasına kadar geçen süre uzun bulunmuştur. Bu hastalarla farklı kliniklerde karşılaşan hekimlerin hastalık hakkındaki farkındalığının artırılması hastalara daha erken tanı konulmasında önemli bir faktör olacaktır.

Anahtar Kelime:

Konular: Pediatri

Mukopolisakkaridoz Hastalarının Demografik ve Klinik Özelliklerinin Değerlendirilmesİ

Öz:

Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients. Materials and Methods: This is a retrospective study which included 27 MPS patients who were diagnosed and treated in our center.Results: The mean age of the group was 112.3±52.5 months (36-196 months); the mean onset age of symptoms was 40.8±30.6 months (4-112 months), and the mean time from symptom onset to diagnosis was 16.3±21.4 months (0-80 months). MPS subgroups were Type III in 13 (48%) patients, Type II in seven (26%), Type VI in four (15%), Type I in two (7%) patients and Type IV in one patient. Nine (33.3%) patients received enzyme replacement therapy (ERT). The mean duration of ERT was 31.3±21.5 months (9-67 months). Conclusion: MPS Type III was found to be the most common subgroup in our center. We can speculate that the mean time from symptom onset to diagnosis was found too long for MPS in which early diagnosis improves the prognosis. Increasing awareness of the disease in physicians encountering these patients in different clinics will be an important factor in the early diagnosis of the disease.

Anahtar Kelime:

Konular: Pediatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	TEKE KISA P, Kose E, ATEŞOĞLU M, arslan n (2017). Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. , 59 - 62.
Chicago	TEKE KISA PELIN,Kose Engin,ATEŞOĞLU Merve,arslan nur Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. (2017): 59 - 62.
MLA	TEKE KISA PELIN,Kose Engin,ATEŞOĞLU Merve,arslan nur Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. , 2017, ss.59 - 62.
AMA	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. . 2017; 59 - 62.
Vancouver	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. . 2017; 59 - 62.
IEEE	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n "Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis." , ss.59 - 62, 2017.
ISNAD	TEKE KISA, PELIN vd. "Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis". (2017), 59-62.

APA	TEKE KISA P, Kose E, ATEŞOĞLU M, arslan n (2017). Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. The Journal of Pediatric Research, 4(2), 59 - 62.
Chicago	TEKE KISA PELIN,Kose Engin,ATEŞOĞLU Merve,arslan nur Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. The Journal of Pediatric Research 4, no.2 (2017): 59 - 62.
MLA	TEKE KISA PELIN,Kose Engin,ATEŞOĞLU Merve,arslan nur Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. The Journal of Pediatric Research, vol.4, no.2, 2017, ss.59 - 62.
AMA	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. The Journal of Pediatric Research. 2017; 4(2): 59 - 62.
Vancouver	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis. The Journal of Pediatric Research. 2017; 4(2): 59 - 62.
IEEE	TEKE KISA P,Kose E,ATEŞOĞLU M,arslan n "Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis." The Journal of Pediatric Research, 4, ss.59 - 62, 2017.
ISNAD	TEKE KISA, PELIN vd. "Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis". The Journal of Pediatric Research 4/2 (2017), 59-62.