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Amaç: Peroksizomal hastalıklar (PH’lar), otozomal resesif geçiş gösteren ve birçok farklı klinik şekilde ortaya çıkabilen doğumsal hastalıklardır. Bu çalışmada, kliniğimizde tanı alan ve izlenen PH tanısı almış olan olguların klinik ve laboratuvar bulgularının ve moleküler genetik özelliklerinin geriye dönük olarak incelenmesi planlanmıştır. Gereç ve Yöntemler: Bu çalışma Dr. Sami Ulus Kadın Doğum, Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi, çocuk metabolizma bölümünde gerçekleştirildi. Ocak 2020 ile Aralık 2020 tarihlerinde, PH şüphesiyle çok uzun zincirli yağ asitleri (ÇUZYA) analizi yapılmış olan hastaların verileri derlendi. 1 yıl içerisinde çeşitli gerekçelerle ÇUZYA analiz edilmiş olan hastalardan, 71 tanesinde anormal değerler tesbit edilmişti. Bu hastaların 20 tanesinde moleküler genetik analiz yöntemleri ile PH’lar araştırılmış ve 6 hastada tesbit edilmişti. Pozitif sonuç elde edilen hastaların verileri hasta dosyalarından derlendi. Bulgular: Altı hastanın verileri geriye yönelik olarak incelendi. Hastaların tanıları şu şekildeydi: Zellweger sendromu (3 hasta), Rizomelik kondrodisplazi punktata tip 1 (2 hasta), AMACR eksikliği (1 hasta). Hastaların başvuru yaşları yenidoğan dönemi ve 6 yaş arasında değişmekteydi. Başlıca başvuru semptomları hipotoni, gelişme geriliği beslenme güçlüğü ve dismorfik yüz bulgularıydı. Tüm hastalarda multisistemik tutulum tesbit edildi. Hastaların laboratuvar incelemelerinde transaminaz yüksekliği en sık saptanan patolojik bulguydu. Bütün hastaların ÇUZYA analizinde yüksek değerler tesbit edildi. Hastaların hepsinde altta yatan genetik patoloji moleküler genetik analiz yöntemleri ile gösterildi (PEX1, PEX5, PEX6, PEX7, PEX12, PEX 26 ve AMACR genleri). Zellweger sendromu tanılı iki hastaya kolik asit tedavisi uygulandı. Sonuç: PH’lar nadir görülen ve farklı klinik bulgularla seyredebilen doğumsal metabolik hastalıklardır. Her ne kadar PH’ın kesin tanısında genetik panel analizleri kullanılsa da, ÇUZYA analizi tanı için yönlendirici olan kolay ve hızlı bir tanısal testtir. Bu nedenle, özellikle görme ve işitme bozukluğu, karaciğer patolojisi ve dismorfik bulguları olan hastalarda tarama programlarına eklenmelidir.
Purpose: Peroxysomal diseases (PHs) are parental diseases that show autosomal resessive transition and can occur in many different clinical ways. In this study, it is planned to reverse the clinical and laboratory findings and molecular genetic characteristics of the phenomena diagnosed and monitored in our clinic. Tools and Methods: This study was conducted at Dr. Sami National Women's Birth, Child Health and Diseases Education and Research Hospital, Children's Metabolism Department. From January 2020 to December 2020, the data of patients who had been analyzed with a very long-chain fatty acid (CUZYA) with a suspicion of PH was collected. In the course of a year, 71 of the patients who were analyzed for a variety of reasons were confirmed with abnormal values. In 20 of these patients, PHs were studied with molecular genetic analysis methods and tested in 6 patients. The patient’s results were collected from the patient’s records. Results: The data of six patients was reviewed backward. The diagnoses of patients were as follows: Zellweger syndrome (3 patients), Rizomal condodisplasia pointata type 1 (2 patients), lack of AMACR (1 patients). The applicant’s age varied between the newborn period and the age of 6 years. The main symptoms of application were hypotension, developmental tension, nutritional difficulties, and dismorphic faces. All patients have a multi-systemic attitude. In the laboratory trials of patients, transaminase was a pathological discovery that was high. High values were confirmed in the CHUZYA analysis of all patients. The underlying genetic pathology in all patients was shown by molecular genetic analysis methods (PEX1, PEX5, PEX6, PEX7, PEX12, PEX 26 and AMACR genes). Two patients diagnosed with Zellweger syndrome were treated with colic acid. The result: PHs are rare and can be observed with different clinical findings. Although genetic panel analyses are used in the exact diagnosis of PH, ZUZYA analysis is an easy and fast diagnostic test that is a guide for the diagnosis. Therefore, it should be added to screening programs especially in patients with vision and hearing disorders, liver pathology and dysmorphic findings.
Objective: Peroxisomal diseases (PDs) are autosomal recessively inherited inborn errors of metabolism (IEMs) that have a wide range of clinical presentations, with variable severity. The aim of this study was to describe cases with various subtypes of PDs with different clinical presentations and to increase the awareness of pediatricians to this metabolic disorder. Material and Methods: The study was conducted in Dr. Sami Ulus Maternity and Child Health Treatment and Research Hospital, division of pediatric metabolism, between December 2020 and January 2021. Patients of whom very long chain fatty acids (VLCFAs) were analysed due to various conditions between January 2020 and December 2020 were retrospectively evaluated. Among patients that VLCFA analyses were performed, 71 tests were found to have abnormal results and 20 of these patients had undergone molecular genetic analysis with the suspicion of PDs. An underlying genetic pathology was detected in 6 patients. Data of patients were obtained from patients files. Results: Six patients were evaluated. Diagnoses of patients were as following: Zellweger spectrum disorders (n=4), rhisomelic chondrodysplasia punctata type 1 (n=1), and AMACR deficiency (n=1). Age of onset of clinical symptoms ranged from the neonatal period to 6 years. Main clinical symptoms were hypotonia, developmental delay and dysmorphic findings. Three patients had cataracts and 5 had sensorineural deafness. Elevated transaminases were detected in 5/6 patients, of whom 4 had abnormal liver function tests. VLCFAs were found to be elevated in all patients. Variants in PEX1, PEX5, PEX6, PEX7, PEX12, PEX 26 and AMACR genes were detected. Patients with liver insufficiency received cholic acid treatment. Conclusion: PDs are very rare IEMs that comprise various subtypes with range of clinical phenotypes with different clinical presentations. Although genetic panel analyses is required for the diagnosis of, VLCFA analysis is a very simple and quick tool for the detection of PDs, and should be included in the screening of patients with visual and hearing impairments, liver disease and dysmorphic findings.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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