Mukopolisakkaridoz Hastalarının Geriye Yönelik Olarak Değerlendirilmesi: Tek Merkez Deneyimi

Öz

Bu çalışmada mukopolisakkaridoz tanısı ile izlediğimiz hastaların klinik, demografik ve laboratuvar verilerinin değerlendirilmesi amaçlanmıştır. Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma Hastalıkları Bilim Dalında mukopolisakkaridoz (MPS) tanısı ile izledi-ğimiz 41 hasta geriye yönelik olarak değerlendirilmiştir. Hastalarımızın dosyalarından MPS tipleri, tanı yaşları, güncel yaşları, cinsiyetleri, doğum ağırlığı, doğum şekli, büyüme ölçütleri, anne-baba arasındaki akrabalık düzeyi ve kardeş ölüm öyküsü kaydedilmiştir. Hastaların yaş ortalaması 9,41 ± 5,79 yıl (dağılım, 0,91-23 yıl) olarak saptanmıştır. Tanı alma yaşları 4,64 ± 4,01 yıl (dağılım, 0,50-19 yıl) olarak izlenmiştir. Hastaların 12’si (% 29,3) MPS tip 4a, 10’u (% 24,4) MPS tip 3, 7’si (% 17) MPS tip 6, 5’i (% 12,2) MPS tip 1, 5’i (% 12,2) MPS tip 2 ve 2’si (% 4,9) MPS tip 7 tanısı ile izlenmektedir. 22 (% 53,6) hastada akrabalık öyküsü, 4 hastada (% 9,7) de ise kardeş ölüm öyküsü mevcut idi. Hastaların 24’ünde (% 58,5) kardiyak tutulum, 19’unda (% 46,3) korneal bulanıklık saptanmıştır. Ayrıca 33 (% 80,5) hastada ‘dizostozis multipleks’ tespit edilmiştir. Sonuç olarak, çalışmamızda MPS tip 4a en sık izlenen tiptir. MPS tip 4a’nın en önemli fizik muayene bulgusu büyüme geriliği, kaba yüz görünümü ve iskelet deformiteleridir. Görüntülemede en önemli bulgu ‘dizostozis multiplekstir’. Hastalarımızdaki en sık kardiyak tutulum ise mitral yetmezlik olarak saptanmıştır.

Anahtar Kelimeler

• Mukopolisakkaridoz
• Enzim Replasman Tedavisi
• Mitral yetmezlik
• Kaba yüz görünümü

Retrospective Evaluation of Patients with Mucopolysaccharidosis: A Single Center Experience

Öz

In this study, we aimed to evaluate the clinical, demographic and laboratory data of patients who were followed up with a diagnosis of mucopolysaccharidosis. 41 patients were evaluated retrospectively which followed up with the diagnosis of mucopolysaccharidosis in the Department of Pediatric Metabolism, Faculty of Medicine, Bursa Uludağ University. MPS types, age of diagnosis, current age, gender, birth weight, mode of delivery, growth metrics, parental consanguinity and sibling death history were recorded from the files of our patients. The mean age of the patients was found to be 9.41 ± 5.79 years (range, 0.91-23 years). The age at diagnosis was 4.64 ± 4.01 years (range, 0.50-19 years). Of the patients, 12 (29.3%) MPS type 4a, 10 (24.4%) MPS type 3, 7 (17%) MPS type 6, 5 (12.2%) MPS type 1, 5 (12.2%) were followed up with MPS type 2 and 2 (4.9%) with MPS type 7. There was a consanguinity history in 22 (53.6%) patients, and a history of sibling death in 4 (9.7%) patients. Cardiac involvement was found in 24 (58.5%) of the patients, and corneal blurring was found in 19 (46.3%). In addition, dysostosis multiplex was detected in 33 (80.5%) patients. In conclusion, MPS type 4a was the most common type in our study. The most important physical examination findings of MPS type 4a were growth retardation, coarse facial appearance and skeletal deformities. The most important finding in imaging was dysostosis multiplex. The most common cardiac involvement in our patients was determined as mitral insufficiency.

Anahtar Kelimeler

• Mucopolysaccharidosis
• Enzyme Replacement Therapy
• Mitral insufficiency
• Coarse facies

Kaynakça

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