Person: ERDÖL, ŞAHİN
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ERDÖL
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ŞAHİN
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Publication Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with(Walter, 2021-11-01) Erdöl, Şahin; Bilgin, Hüseyin; Sağlam, Halil; ERDÖL, ŞAHİN; BİLGİN, HÜSEYİN; SAĞLAM, HALİL; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı/Metabolizma Bilim Dalı; 0000-0002-6598-8262; GLN-8241-2022; JMQ-9930-2023; HSF-7083-2023Objectives: We aimed to compare plasmapheresis and medical apheresis as lipid-lowering therapies in children with familial lipoprotein lipase (LPL) deficiency. Methods: The data of 13 patients who were followed up after a diagnosis of LPL deficiency were retrospectively analyzed. Plasma triglyceride, cholesterol, amylase, and lipase values and complications were recorded before and after each patient underwent plasmapheresis or medical apheresis. Results: The mean follow-up period of the patients was 99.64 +/- 52.92 months in the medical apheresis group and 118 +/- 16.97 months in the plasmapheresis group. While the mean triglyceride level before plasmapheresis was 1,875.38 +/- 547.46 mg/dL, it was 617 +/- 228.28 mg/dL after plasmapheresis. While the mean triglyceride level before medical apheresis was 1,756.86 +/- 749.27 mg/dL, it was found to be 623.03 +/- 51.36 mg/dL after medical apheresis. Triglyceride levels were decreased by 59.62% with medical apheresis and 65.57% with plasmapheresis. The cost of treatment for medical apheresis was found to be lower compared to plasmapheresis 296.93 +/- 29.94 Turkish lira (USD 43.34 +/- 4.01) vs. 3,845.42 +/- 156.17 Turkish lira (USD 561.37 +/- 20.93; p<0.001). Conclusions: Although there is no standardized strategy for the acute treatment of hypertriglyceridemia due to LPL deficiency, medical apheresis is a safe and effective treatment with a low risk of side effects. Unlike plasmapheresis, medical apheresis can be performed in any center, which is another important advantage of the procedure. A greater catabolism. diabetes, tions gene the titis, xhantoms acute zil, familial and these there treatment. tingPublication Alkaptonuria in turkey: Clinical and molecular characteristics of 66 patients(Elsevier, 2021-03-14) Kısa, Pelin Teke; Gündüz, Mehmet; Dorum, Sevil; Uzun, Özlem Ünal; Çakar, Nafiye Emel; Yıldırım, Gonca Kılıç; Erdöl, Şahin; Hışmi, Burcu Öztürk; Tuğsal, Handan Yarkan; Uçar, Ülkü; Görükmez, Özlem; Gülten, Zümrüt Arslan; Küçükçongar, Aynur; Bülbül, Selda; Sarı, İsmail; Arslan, Nur; ERDÖL, ŞAHİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Metabolizma ve Beslenme Anabilim Dalı,; HSF-7083-2023Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients? data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.Publication Evaluation of patients with phenylalanine metabolism disorder: A single center experience(Walter De Gruyter Gmbh, 2022-01-27) Erdöl, Şahin; Bilgin, Hüseyin; ERDÖL, ŞAHİN; BİLGİN, HÜSEYİN; Uludağ Üniversitesi/ Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; 0000-0002-5946-7356; JMQ-9930-2023; HSF-7083-2023Aim The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. Materials and methods In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated. Results According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 +/- 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 +/- 3.99 mg/dL in mild phenylketonuria and 11.71 +/- 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group. Conclusions In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.Publication Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII(Academic Press Inc Elsevier Science, 2021-02-01) Sivri, Hatice Serap; Erdöl, Şahin; ERDÖL, ŞAHİN