Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
Journal Title: The Journal of Pediatric Research - Year 2018, Vol 5, Issue 1
Abstract
Aim: The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these patients. We want to mention that the patients with HTI have heterogeneous clinic. Early diagnosis and early treatment important to prevent the complications. Materials and Methods: Aretrospective study was carried out with twenty nine patients with HTI and who had been followed up by Ege University Faculty of Medicine, Department of Pediatric Metabolic Diseases and Nutrition Unit between December 1996 and September 2017. Results: Eight patients were acute form, thirteen were subacute and eight patients were chronic form. Mean age onset of clinical symptoms was 3.7±1.6, 9±1.6 and 41±27 months in acute, subacute and chronic HTI patients, respectively. The mean interval from the first symptom the diagnosis was 12.2 months. Mean of follow-up was 82.2 months (minimum: 1 month-maximum: 203 months). Five patients of HTI diagnosed with hepatocellular carcinoma and neurogenic crises were detected in four patients. Conclusion: NTBC treatment is effective and improves the prognosis of HTI. But early diagnosis and treatment leads to much better outcome. Adherence to the diet and treatment and follow-up schedule of the patients are vital.
Authors and Affiliations
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker
Keywords
Related Articles
- EP ID EP370638
- DOI 10.4274/jpr.00710
- Views 63
- Downloads 0
Endocrine Disrupting Chemicals: A Challenge to Child Health
.
A Cause of Fever that should be Kept in Mind in Family Medicine in Settlements Where Livestock Farming is Widespread: Brucellosis
Aim: In our country, where animal husbandry is widespread, we aimed to examine retrospectively data concerning childhood Brucellosis cases, which are not very high in the literature, which may occur with many variable cl...
Evaluation of Syringe Feeding Compared to Bottle Feeding for the Transition from Gavage Feeding to Oral Feeding in Preterm Infants
Aim: Syringe feeding is a good alternative to a nursing supplementer when breastfeeding is not possible. Materials and Methods: This study was conducted at a level 2 neonatal intensive care unit in the Zekai Tahir Burak...
Stenotrophomonas Maltophilia/S. Maltophilia Sepsis Presenting with Perianal Cellulitis and Pneumonia in a Leukemic Child
Infections caused by Stenotrophomonas maltophilia may be fatal in diseases such as leukaemia which causes immunodeficiency. Herein, we report a rare case of 8-year-old girl with acute lymphoblastic leukaemia, who develop...
Factors Affecting Physical Growth in Children with Primary Vesicoureteral Reflux: A Single Center Experience
Aim: Primary Vesicoureteral reflux (VUR) is defined as retrograde urine flow from the bladder to the upper urinary system due to an insufficient valvular mechanism in the ureterovesical junction. We aimed to clarify fact...