Nörofibromatozis tip 1 olan çocuklarda klinik fenotipi etkileyen faktörler

Amaç: Bu çalışmada, Nörofibromatozis tip 1 (NF-1) tanısı ile izlenen çocukların klinik, radyolojik ve genetik özelliklerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Eylül 2012 ile Eylül 2019 tarihleri arasında Ulusal Sağlık Enstitüsü 1988 kriterlerine göre 0-18 yaş Nörofibramatozis tanısı almış hastalar çalışmaya dahil edildi. Hasta verileri, hasta dosyaları ve hastane bilgi sistemi üzerinden toplandı. Bulgular: Toplam 50 hasta çalışmaya alındı. Erkek / kız oranı 0,92 idi. Tanı anındaki ortanca yaş 5,6 yıldı (yaş aralığı: 1-18 yıl). Tüm hastalarda saptanan en yaygın bulgu Cafe-au-lait lekeleriydi. Hastaların %60’ında aile öyküsü ve %14’ünde ebeveynler arasında akrabalık saptandı. Hastaların %12'sinde nörofibrom, %36'sında Lisch nodülü saptandı. Aksiler çillenme oranı %82, inguinal çillenme oranı %78 idi. Hastaların %22'sinde tümör, %12'sinde optik gliom ve %6'sında pleksiform nörofibrom saptandı. Kraniyal manyetik rezonans görüntülemede (MRG) %56 oranında fokal alanlarda sinyal yoğunluk artışı (FASI) saptandı. Sonuç: NF-1'de mutasyon tipi ile klinik ve radyolojik özellikler arasındaki ilişki değerlendirildi. Mutasyonlu ve mutasyonsuz hastalar arasında klinik ve radyolojik bulgular açısından istatistiksel olarak anlamlı bir fark yoktu. NF-1 tanılı hastalarda klinik fenotipi belirleyen faktörleri ortaya çıkarmak için geniş ölçekli çalışmalara ihtiyaç vardır.

Factors affecting clinical phenotype in children with neurofibromatosis type 1

Purpose: In this study, it was aimed to evaluate the clinical, radiological and genetic features of children who were followed up with the diagnosis of Neurofibromatosis type 1 (NF-1). Materials and Methods: Patients who were 0-18 years diagnosed with Neurofibromatosis according to National Institute of Health 1988 criteria between September 2012 and September 2019 were included in the study. Patient data were collected through patient files and hospital information system. Results: A total of 50 patients were included in the study. The male/female ratio was 0.92. The median age at the time of diagnosis was 5.6 years (age range: 1-18 years). The most common finding was cafe-au-lait spots detected in all patients. Family history was found in 60% of the patients and consanguinity between parents in 14%. Neurofibroma was detected in 12%, Lisch nodule in 36% of the patients. Axillary freckling ratio was 82%, inguinal freckling ratio was 78%. Tumors were found in 22% of the patients, optic glioma in 12%, and plexiform neurofibroma in 6%. Focal areas of signal intensity (FASI) was found 56% in cranial magnetic resonance imaging (MRI). Conclusion: The relationship between mutation type and clinical and radiological features in NF-1 was evaluated. There was no statistically significant difference in clinical and radiological findings between patients with or without mutation. Large-scale studies are needed to reveal the factors that determine the clinical phenotype in patients with NF-1 diagnosis.

Keywords:

Neurofibromatosis Type 1 phenotype, cafe-au-lait spots,

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