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Journals / The Journal of Pediatric Research / 2018 / Cilt: 5 - Sayı: 1

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Havva YAZICI
Esra ER
Ebru CANDA
SARA HABİF
Sema KALKAN UÇAR
MAHMUT ÇOKER
Pages
1–6
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Adherence to the diet andtreatment and follow-up schedule of the patients are vital.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Earlydiagnosis and early treatment important to prevent the complications.Materials and Methods: A retrospective 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.
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Conclusion & Impact:Adherence to the diet andtreatment and follow-up schedule of the patients are vital.
🔬Design:Research Article
📍Scope:2017 Verileri
⚙️Variables:Domain Parameters

Özet

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. Earlydiagnosis and early treatment important to prevent the complications.Materials and Methods: A retrospective 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±27months 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 andtreatment and follow-up schedule of the patients are vital.

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Cite This Article

YAZICI, H., ER, E., CANDA, E., HABİF, S., UÇAR, S. K., ÇOKER, M. (2018). Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 1–6. https://ajindex.com/articles/362919

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