Research Article
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Tip 1 tirozinemi hastalarında kardiyomiyopati ve nitisinon tedavisinin kardiyomiyopatiye etkisi

Year 2021, Volume 46, Issue 4, 1419 - 1425, 30.12.2021
https://doi.org/10.17826/cumj.984072

Abstract

Amaç: Bu çalışma, tip 1 tirozinemi hastalarında kardiyomiyopati sıklığını ve rutin olarak kullanılan nitisinon tedavisine yanıtını retrospektif olarak değerlendirmeyi amaçlamıştır. Gereç ve Yöntem: Tanımlayıcı ve kesitsel olan bu çalışmadaki olgular, tek bir metabolizma ünitesinin takibinde olan Tirozinemi Tip 1 hastalarıdır. Çalışmanın önceliği tanı anında “anormal ekokardiyografik bulguların varlığını” ve nitisinon tedavisinin bu bulgulara etkisini değerlendirmektir. Bulgular: Çalışmaya alınan 54 hastanın 21'i (%38,9) kız, 33'ü (%61,1) erkekti. 41 hasta tanı anında ekokardiyografi ile değerlendirildi. Dokuzunda (%21,9) farklı şiddette hipertrofik kardiyomiyopatik değişiklikler mevcuttu. Takip döneminde yapılan ikincil ekokardiyografik incelemeler, nitisinon tedavisinin kardiyak durumda iyileşmeye sebep olduğunu ortaya koydu. On üç hasta takipleri bıraktı. Geriye kalan 41 hastanın 10’u (%24,4) kaybedildi, 31 (%75,6) hasta ise hayatta kaldı. Ekokardiyografik değişiklikleri olan hastalar, ekokardiyografik anormalliği olmayan hastalarla karşılaştırıldığında, plazma aspartat aminotransferaz (AST), total bilirubin ve direkt bilirubin konsantrasyonları açısından istatistiksel olarak anlamlı farklılıklar bulundu Sonuç: Kardiyak bulgusu olmayanlar da dahil olmak üzere tüm tirozinemi tip 1 hastalarında ekokardiyografik inceleme yapılmalıdır. Kardiyomiyopatinin varlığı kötü bir prognoza işaret edebilir. Nitisinonun tip 1 tirozinemili hastalarda kardiyomiyopati üzerinde olumlu bir etkisinin olduğu bulunmuştur.

References

  • 1. Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, et al. Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. Orphanet J Rare Dis. 2017 Mar;12(1):48.
  • 2. Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, et al. Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review. Orphanet J Rare Dis. 2017 Sep;12(1):154.
  • 3. Chakrapani A, Gissen P, McKiernan P. Disorders of tyrosine metabolism. In: Inborn metabolic diseases. Springer; 2012. p. 265–76.
  • 4. Chinsky JM, Singh R, Ficicioglu C, Van Karnebeek CDM, Grompe M, Mitchell G, et al. Diagnosis and treatment of Tyrosinemia Type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12):1380.
  • 5. van Ginkel WG, Rodenburg IL, Harding CO, Hollak CEM, Heiner-Fokkema MR, van Spronsen FJ. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1. Paediatr Drugs. 2019 Dec;21(6):413–26.
  • 6. van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, et al. Emotional and behavioral problems, quality of life and metabolic control in Nitsinon-treated Tyrosinemia type 1 patients. Orphanet J Rare Dis. 2019 Dec;14(1):285.
  • 7. Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, et al. Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. BMC Res Notes. 2013 Sep;6:362.
  • 8. Akdoğan M, Kayhan B, Diğdem Ö, Kacar S. Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: An unusual case report. Akad Gastroenteroloji Derg. 2007;6(2):90–3.
  • 9. Aktuglu-Zeybek AC, Kiykim E, Cansever MS. Hereditary Tyrosinemia Type 1 in Turkey. Adv Exp Med Biol. 2017;959:157–72.
  • 10. Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ. Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis. 2006 Feb;29(1):54–7.
  • 11. King LS, Trahms C, Scott CR. Tyrosinemia type I. In: GeneReviews®[Internet]. University of Washington, Seattle; 2017.
  • 12. Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, et al. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. Int J neonatal Screen. 2020 Jun;6(2).
  • 13. Tunçbilek E, Ozgüç M. Application of medical genetics in Turkey. Turk J Pediatr. 2007;49(4):353–9.
  • 14. Doğruel D, Gündeşlioğlu ÖÖ, Yılmaz M, Alabaz D, Altıntaş DU, Kocabaş E. Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey. Turk J Pediatr. 2019;61(2):174–9.
  • 15. Elmas M, Gogus B. Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience. Mol Syndromol. 2020 Feb;11(1):4–14.
  • 16. de Laet C, Dionisi-Vici C, Leonard J V, McKiernan P, Mitchell G, Monti L, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013 Jan;8:8.
  • 17. Mohan N, McKiernan P, Kelly DA, Preece MA, Green A, Buckels J, et al. Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr. 1999;158(2):S049–54.
  • 18. Wilkinson JD, Sleeper LA, Alvarez JA, Bublik N, Lipshultz SE. The Pediatric Cardiomyopathy Registry: 1995-2007. Prog Pediatr Cardiol. 2008 Apr;25(1):31–6.
  • 19. Lindblad B, Fällström SP, Höyer S, Nordborg C, Solymar L, Velander H. Cardiomyopathy in fumarylacetoacetase deficiency (hereditary tyrosinaemia): a new feature of the disease. J Inherit Metab Dis. 1987;10:319–22.
  • 20. Seda Neto J, Leite KMR, Porta A, Fonseca EA, Feier FH, Pugliese R, et al. HCC prevalence and histopathological findings in liver explants of patients with hereditary Tyrosinemia Type 1. Pediatr Blood Cancer. 2014;61(9):1584–9.
  • 21. André N, Roquelaure B, Jubin V, Ovaert C. Successful treatment of severe cardiomyopathy with Nitisinone in a child with tyrosinaemia type I. J Inherit Metab Dis Off J Soc Study Inborn Errors Metab. 2005;28(1):103–6.

Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

Year 2021, Volume 46, Issue 4, 1419 - 1425, 30.12.2021
https://doi.org/10.17826/cumj.984072

Abstract

Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response to routinely used nitisinone treatment in patients with tyrosinemia type 1. Materials and Methods: Participants of this descriptive cross-sectional study were Tyrosinemia Type 1 patients who were under the care of a single metabolic unit. The primary outcome of the study was “presence of abnormal echocardiographic findings” at diagnosis and the impact of nitisinone treatment on the detected findings. Results: Of the 54 patients enrolled in the study, 21 (38.9%) were female and 33 (61.1%) were male. 41 patients were evaluated using echocardiography at the time of diagnosis. 9 (21.9%) of them had hypertrophic cardiomyopathic alterations varying in severity. In the follow-up period, second echocardiographic examinations revealed improvements in cardiac alterations while on nitisinone treatment. Thirteen patients dropped out of follow-up. Of the remaining 41 patients, 10 (24.4%) patients died in the follow-up period, whereas 31 (75.6%) remained alive. Plasma aspartate aminotransferase (AST), total bilirubin, and direct bilirubin concentrations were significantly higher in patients witj normal cardiac evaluation. Conclusion: Echocardiographic examination should be done in all tyrosinemia type 1 patients including those with an absence of cardiac manifestations. The presence of cardiomyopathy may indicate a poor prognosis. Nitisinone is found to have a positive impact on cardiomyopathy in patients with type 1 tyrosinemia.

References

  • 1. Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, et al. Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. Orphanet J Rare Dis. 2017 Mar;12(1):48.
  • 2. Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, et al. Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review. Orphanet J Rare Dis. 2017 Sep;12(1):154.
  • 3. Chakrapani A, Gissen P, McKiernan P. Disorders of tyrosine metabolism. In: Inborn metabolic diseases. Springer; 2012. p. 265–76.
  • 4. Chinsky JM, Singh R, Ficicioglu C, Van Karnebeek CDM, Grompe M, Mitchell G, et al. Diagnosis and treatment of Tyrosinemia Type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12):1380.
  • 5. van Ginkel WG, Rodenburg IL, Harding CO, Hollak CEM, Heiner-Fokkema MR, van Spronsen FJ. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1. Paediatr Drugs. 2019 Dec;21(6):413–26.
  • 6. van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, et al. Emotional and behavioral problems, quality of life and metabolic control in Nitsinon-treated Tyrosinemia type 1 patients. Orphanet J Rare Dis. 2019 Dec;14(1):285.
  • 7. Mohamed S, Kambal MA, Al Jurayyan NA, Al-Nemri A, Babiker A, Hasanato R, et al. Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. BMC Res Notes. 2013 Sep;6:362.
  • 8. Akdoğan M, Kayhan B, Diğdem Ö, Kacar S. Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: An unusual case report. Akad Gastroenteroloji Derg. 2007;6(2):90–3.
  • 9. Aktuglu-Zeybek AC, Kiykim E, Cansever MS. Hereditary Tyrosinemia Type 1 in Turkey. Adv Exp Med Biol. 2017;959:157–72.
  • 10. Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ. Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis. 2006 Feb;29(1):54–7.
  • 11. King LS, Trahms C, Scott CR. Tyrosinemia type I. In: GeneReviews®[Internet]. University of Washington, Seattle; 2017.
  • 12. Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, et al. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. Int J neonatal Screen. 2020 Jun;6(2).
  • 13. Tunçbilek E, Ozgüç M. Application of medical genetics in Turkey. Turk J Pediatr. 2007;49(4):353–9.
  • 14. Doğruel D, Gündeşlioğlu ÖÖ, Yılmaz M, Alabaz D, Altıntaş DU, Kocabaş E. Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey. Turk J Pediatr. 2019;61(2):174–9.
  • 15. Elmas M, Gogus B. Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience. Mol Syndromol. 2020 Feb;11(1):4–14.
  • 16. de Laet C, Dionisi-Vici C, Leonard J V, McKiernan P, Mitchell G, Monti L, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013 Jan;8:8.
  • 17. Mohan N, McKiernan P, Kelly DA, Preece MA, Green A, Buckels J, et al. Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr. 1999;158(2):S049–54.
  • 18. Wilkinson JD, Sleeper LA, Alvarez JA, Bublik N, Lipshultz SE. The Pediatric Cardiomyopathy Registry: 1995-2007. Prog Pediatr Cardiol. 2008 Apr;25(1):31–6.
  • 19. Lindblad B, Fällström SP, Höyer S, Nordborg C, Solymar L, Velander H. Cardiomyopathy in fumarylacetoacetase deficiency (hereditary tyrosinaemia): a new feature of the disease. J Inherit Metab Dis. 1987;10:319–22.
  • 20. Seda Neto J, Leite KMR, Porta A, Fonseca EA, Feier FH, Pugliese R, et al. HCC prevalence and histopathological findings in liver explants of patients with hereditary Tyrosinemia Type 1. Pediatr Blood Cancer. 2014;61(9):1584–9.
  • 21. André N, Roquelaure B, Jubin V, Ovaert C. Successful treatment of severe cardiomyopathy with Nitisinone in a child with tyrosinaemia type I. J Inherit Metab Dis Off J Soc Study Inborn Errors Metab. 2005;28(1):103–6.

Details

Primary Language English
Subjects Medicine
Journal Section Research
Authors

Berrak BİLGİNER GÜRBÜZ> (Primary Author)
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0002-6197-0647
Türkiye


H. Hakan AYKAN>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0001-5136-3977
Türkiye


Kısmet ÇIKI This is me
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0002-6800-8848
Türkiye


Tevfik KARAGÖZ>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0002-7680-8183
Türkiye


Serap SİVRİ>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0001-8260-9984
Türkiye


Ali DURSUN>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0003-1104-9902
Türkiye


Ayşegül TOKATLI>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0003-2812-9319
Türkiye


Turgay COŞKUN>
HACETTEPE UNIVERSITY, HACETTEPE UNIVERSITY HOSPITALS RESEARCH AND APPLICATION CENTER
0000-0001-9589-0445
Türkiye

Publication Date December 30, 2021
Published in Issue Year 2021, Volume 46, Issue 4

Cite

MLA Bilginer Gürbüz, B. , Aykan, H. H. , Çıkı, K. , Karagöz, T. , Sivri, S. , Dursun, A. , Tokatlı, A. , Coşkun, T. "Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy" . Cukurova Medical Journal 46 (2021 ): 1419-1425 <https://dergipark.org.tr/en/pub/cumj/issue/62103/984072>