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Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu

Year 2011, Volume: 11 Issue: 1, 32 - 35, 01.01.2011

Murat Sütçü Ayşe Kılıç Emin Ünüvar Nelgin Gerenli Muhammet Serdar Cantez Işıl Özer Fatma Oğuz Müjgan Sıdal Gülden Gökçay Özlem Durmaz

https://doi.org/10.5222/j.child.2011.032

Abstract

Tirozinemi, tirozin aminoasidi metabolizmasındaki heredi- ter bozukluktur Herediter tirozineminin çeşitli klinik form- ları olmakla birlikte, en sık tip 1 herediter tirozinemi diğer adıyla hepatorenal tirozinemi görülür. Bu durum tirozin aminoasidinin yıkımından sorumlu fumaril asetoasetat hidrolaz enzim defektinden kaynaklanır. Ön planda etkile- nen organlar karaciğer, böbrek ve sinir sistemidir. Böbrekte tubulopati sonucu fanconi sendromuna neden olarak hipo- fosfatemik raşitizme yol açabilir. Bacaklarda eğrilik ve yürümede güçlük yakınması ile başvuran ve herediter tiro- zinemi tanısı alan ender bir vaka sunulmuştur

Keywords

Herediter tirozinemi hipofosfatemik raşitizm fanconi sendromu

References

  • 1. Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pediatr Dev Pathol 2001;4:212-21. http://dx.doi.org/10.1007/s100240010146 PMid:11370259
  • 2. Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 2001;21:563-71. http://dx.doi.org/10.1055/s-2001-19035 PMid:11745044
  • 3. Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995;7:726-32. PMid:8776026
  • 4. Bijarnia S, Puri RD, Ruel J ve ark. Tyrosinemia type I-diagnostic issues and prenatal diagnosis. Indian J Pediatr 2006;73:163-5. http://dx.doi.org/10.1007/BF02820214
  • 5. Ashorn M, Pitkanen S, Salo MK ve ark. Current strategies for the treatment of hereditary tyrosinemia type I. Pediatr Drugs 2006;8:47-54. http://dx.doi.org/10.2165/00148581-200608010-00004 PMid:16494511
  • 6. Akdoğan M, Kayhan B, Özer D ve ark. Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: Akademik Gastr Dergisi 2007;6(2):90-3.
  • 7. Ozcay F, Canan O, Bilezikci B ve ark. Effect of living donor liver transplantation on outcome of children with inherited liver disease and hepatocellular carcinoma. Clin Transplant 2006;20:776-82. http://dx.doi.org/10.1111/j.1399-0012.2006.00571.x PMid:17100729
  • 8. Endo F, Sun MS. Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis 2002;25:227-34. http://dx.doi.org/10.1023/A:1015646400182 PMid:12137232
  • 9. Koelink CJ, van Hasselt P, van der Ploeg A ve ark. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 2006;89:310-5. http://dx.doi.org/10.1016/j.ymgme.2006.07.009 PMid:17008115
  • 10. McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type 1. Drugs 2006;66:743-50. http://dx.doi.org/10.2165/00003495-200666060-00002 P,Mid:16706549
  • 11. Mitchell G, Larochelle J, Lambert M ve ark. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322:432- 7. http://dx.doi.org/10.1056/NEJM199002153220704 PMid:2153931
  • 12. Aytekin C, Fırat A, Boyvat F, et al. Karaciğer tümörlerinin tedavisinde radyofrekans ablasyon. Akademik Gastroenteroloji Dergisi 2002;1:36-40.

Hereditary Tyrosinemia Presented by Hypophosphatemic Rickets in Fifteen old Male Patient: A Rare Case Report

Year 2011, Volume: 11 Issue: 1, 32 - 35, 01.01.2011

Murat Sütçü Ayşe Kılıç Emin Ünüvar Nelgin Gerenli Muhammet Serdar Cantez Işıl Özer Fatma Oğuz Müjgan Sıdal Gülden Gökçay Özlem Durmaz

https://doi.org/10.5222/j.child.2011.032

Abstract

Tyrosinemia is a hereditary metabolic disorder of the amino acid, tyrosine. There are several types of tyrosine- mia, the most common of them is type 1 which is also recognized as hepatorenal tyrosinemia. Defects of asetoa- cetate hydrolase enzymes which are involved in the degra- dation of tyrosine are responsible for hereditary tyrosine- mia. Primarily liver, kidneys and nervous system, are affected Tubulopathies in hereditary tyrosinemia causes renal Fanconi syndrome which might result in hypophosp- hatemic rachitism. A rare case with limb deformities comp- laining of gait problems diagnosed as hereditary tyrosine- mia is presented

Keywords

Hereditary tyrosinemia Fanconi syndrome hypophosphatemic rickets

References

  • 1. Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pediatr Dev Pathol 2001;4:212-21. http://dx.doi.org/10.1007/s100240010146 PMid:11370259
  • 2. Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 2001;21:563-71. http://dx.doi.org/10.1055/s-2001-19035 PMid:11745044
  • 3. Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995;7:726-32. PMid:8776026
  • 4. Bijarnia S, Puri RD, Ruel J ve ark. Tyrosinemia type I-diagnostic issues and prenatal diagnosis. Indian J Pediatr 2006;73:163-5. http://dx.doi.org/10.1007/BF02820214
  • 5. Ashorn M, Pitkanen S, Salo MK ve ark. Current strategies for the treatment of hereditary tyrosinemia type I. Pediatr Drugs 2006;8:47-54. http://dx.doi.org/10.2165/00148581-200608010-00004 PMid:16494511
  • 6. Akdoğan M, Kayhan B, Özer D ve ark. Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: Akademik Gastr Dergisi 2007;6(2):90-3.
  • 7. Ozcay F, Canan O, Bilezikci B ve ark. Effect of living donor liver transplantation on outcome of children with inherited liver disease and hepatocellular carcinoma. Clin Transplant 2006;20:776-82. http://dx.doi.org/10.1111/j.1399-0012.2006.00571.x PMid:17100729
  • 8. Endo F, Sun MS. Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis 2002;25:227-34. http://dx.doi.org/10.1023/A:1015646400182 PMid:12137232
  • 9. Koelink CJ, van Hasselt P, van der Ploeg A ve ark. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 2006;89:310-5. http://dx.doi.org/10.1016/j.ymgme.2006.07.009 PMid:17008115
  • 10. McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type 1. Drugs 2006;66:743-50. http://dx.doi.org/10.2165/00003495-200666060-00002 P,Mid:16706549
  • 11. Mitchell G, Larochelle J, Lambert M ve ark. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322:432- 7. http://dx.doi.org/10.1056/NEJM199002153220704 PMid:2153931
  • 12. Aytekin C, Fırat A, Boyvat F, et al. Karaciğer tümörlerinin tedavisinde radyofrekans ablasyon. Akademik Gastroenteroloji Dergisi 2002;1:36-40.
There are 12 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Murat Sütçü This is me

Ayşe Kılıç This is me

Emin Ünüvar This is me

Nelgin Gerenli This is me

Muhammet Serdar Cantez This is me

Işıl Özer This is me

Fatma Oğuz This is me

Müjgan Sıdal This is me

Gülden Gökçay This is me

Özlem Durmaz This is me

Publication Date January 1, 2011
Published in Issue Year 2011 Volume: 11 Issue: 1

Cite

APA Sütçü, M., Kılıç, A., Ünüvar, E., Gerenli, N., et al. (2011). Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu. Journal of Child, 11(1), 32-35. https://doi.org/10.5222/j.child.2011.032
AMA Sütçü M, Kılıç A, Ünüvar E, Gerenli N, Cantez MS, Özer I, Oğuz F, Sıdal M, Gökçay G, Durmaz Ö. Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu. Journal of Child. January 2011;11(1):32-35. doi:10.5222/j.child.2011.032
Chicago Sütçü, Murat, Ayşe Kılıç, Emin Ünüvar, Nelgin Gerenli, Muhammet Serdar Cantez, Işıl Özer, Fatma Oğuz, Müjgan Sıdal, Gülden Gökçay, and Özlem Durmaz. “Hipofosfatemik Raşitizm Ile Gelen Herediter Tirozinemili On Beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu”. Journal of Child 11, no. 1 (January 2011): 32-35. https://doi.org/10.5222/j.child.2011.032.
EndNote Sütçü M, Kılıç A, Ünüvar E, Gerenli N, Cantez MS, Özer I, Oğuz F, Sıdal M, Gökçay G, Durmaz Ö (January 1, 2011) Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu. Journal of Child 11 1 32–35.
IEEE M. Sütçü, “Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu”, Journal of Child, vol. 11, no. 1, pp. 32–35, 2011, doi: 10.5222/j.child.2011.032.
ISNAD Sütçü, Murat et al. “Hipofosfatemik Raşitizm Ile Gelen Herediter Tirozinemili On Beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu”. Journal of Child 11/1 (January 2011), 32-35. https://doi.org/10.5222/j.child.2011.032.
JAMA Sütçü M, Kılıç A, Ünüvar E, Gerenli N, Cantez MS, Özer I, Oğuz F, Sıdal M, Gökçay G, Durmaz Ö. Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu. Journal of Child. 2011;11:32–35.
MLA Sütçü, Murat et al. “Hipofosfatemik Raşitizm Ile Gelen Herediter Tirozinemili On Beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu”. Journal of Child, vol. 11, no. 1, 2011, pp. 32-35, doi:10.5222/j.child.2011.032.
Vancouver Sütçü M, Kılıç A, Ünüvar E, Gerenli N, Cantez MS, Özer I, Oğuz F, Sıdal M, Gökçay G, Durmaz Ö. Hipofosfatemik Raşitizm ile Gelen Herediter Tirozinemili On beş Yaşında Erkek Hasta: Ender Bir Vaka Sunumu. Journal of Child. 2011;11(1):32-5.