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“Siyah” disk ile ortaya çıkan sıradışı bir alkaptonüri olgusu

Year 2013, Volume: 47 Issue: 2, 134 - 138, 26.04.2013

Ramazan Kahveci Mehmet Fikret Ergungor Ahmet Gunaydin Atiye Temiz

Abstract

Alkaptonürinin doğal seyrinde intervertebral disk dejenerasyonu sık görülse de, diğer alkaptonüri bulguları olmadan hastalığın siyah disk materyali ile saptanması oldukça nadir bir durumdur. Çalışmada lomber disk herniasyonu ameliyatında nukleus pulposus içeriğinin siyah olduğu görülen bir olgu değerlendirildi. Alkaptonüri tanısı siyah disk materyalinin histopatolojik incelemesi ile konuldu. İdrarda homogentisik asit konsantrasyonunun yüksek bulunması ile tanı desteklendi.

Keywords

Alkaptonüri; lomber disk herniasyonu; kronozis; siyah disk.

References

  • Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902;2:1616-20.
  • Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14: 19Milch RA. Studies of alkaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 1960;12:76-85.
  • Srsen S. Analysis of the causes of the relatively frequent incidence of alkaptonuria in Slovakia. [Article in Slovak] Cas Lek Cesk 1983;122:1585-7.
  • Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, et al. Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet 2002;39:E40.
  • Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 2000;67:1333-9.
  • Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, et al. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 2009;30:1611
  • Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111-21.
  • La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 2109Goldsmith L. Disorders of metabolism. In: Fitzpatrick T, Arthur E, Wolff K, Irwin F, Frank A, editors. Dermatology in General Medicine, 3rd ed. New York: McGraw-Hill Book Co; 1987. p. 1642-6.
  • Reddy DR, Prasad VS. Alkaptonuria presenting as lumbar disc prolapse. A case report and review of the literature. Spinal Cord 1998;36:523-4.
  • Emel E, Karagöz F, Ayd›n H, Hac›saliho¤lu S, Seyithano¤lu MH. Alkaptonuria with lumbar disc herniation. A report of two cases. Spine (Phila Pa 1976) 2000;25:2141-4.
  • Choudhury R, Rajamani SS, Rajshekhar V. A case of ochronosis: MRI of the lumbar spine. Neuroradiology 2000; 42:905-7.
  • Farzannia A, Ghaffar S, Hadidchi S. Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg 2003; 98(1 Suppl):87-9.
  • Gürkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien) 2006;148:891-4.
  • Laskar FH, Sargison KD. Ochronotic arthropathy. A review with four case reports. J Bone Joint Surg Br 1970;52:653-66. Zannoni VG, Lomtevas N, Goldfinger S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta 1969;177:94-105.
  • Balaban B, Taskaynatan M, Yasar E, Tan K, Kalyon T. Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. Clin Rheumatol 2006;25:59860
  • La Du BN. Are we ready to try to cure alkaptonuria? Am J Hum Genet 1998;62:765-7.

Alkaptonuric patient presenting with “black” disc: a case report

Year 2013, Volume: 47 Issue: 2, 134 - 138, 26.04.2013

Ramazan Kahveci Mehmet Fikret Ergungor Ahmet Gunaydin Atiye Temiz

Abstract

Although intervertebral disc degeneration usually occurs in the natural course of alkaptonuria, detection of the disease by black disc material in a patient without any other sign of alkaptonuria is an extremely rare condition. The authors report a 45-year-old previously healthy female patient who was operated on for prolapsed lumbar disc herniation, and in whom the nucleus pulposus was discovered to be black intraoperatively. The alkaptonuria was diagnosed after histopathological examination of the black disc material. Elevated urinary concentration of homogentisic acid confirmed the diagnosis.

Keywords

Alkaptonuria black disc material lumbar disc herniation ochronosis

References

  • Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902;2:1616-20.
  • Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14: 19Milch RA. Studies of alkaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 1960;12:76-85.
  • Srsen S. Analysis of the causes of the relatively frequent incidence of alkaptonuria in Slovakia. [Article in Slovak] Cas Lek Cesk 1983;122:1585-7.
  • Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, et al. Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet 2002;39:E40.
  • Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 2000;67:1333-9.
  • Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, et al. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 2009;30:1611
  • Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111-21.
  • La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 2109Goldsmith L. Disorders of metabolism. In: Fitzpatrick T, Arthur E, Wolff K, Irwin F, Frank A, editors. Dermatology in General Medicine, 3rd ed. New York: McGraw-Hill Book Co; 1987. p. 1642-6.
  • Reddy DR, Prasad VS. Alkaptonuria presenting as lumbar disc prolapse. A case report and review of the literature. Spinal Cord 1998;36:523-4.
  • Emel E, Karagöz F, Ayd›n H, Hac›saliho¤lu S, Seyithano¤lu MH. Alkaptonuria with lumbar disc herniation. A report of two cases. Spine (Phila Pa 1976) 2000;25:2141-4.
  • Choudhury R, Rajamani SS, Rajshekhar V. A case of ochronosis: MRI of the lumbar spine. Neuroradiology 2000; 42:905-7.
  • Farzannia A, Ghaffar S, Hadidchi S. Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg 2003; 98(1 Suppl):87-9.
  • Gürkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien) 2006;148:891-4.
  • Laskar FH, Sargison KD. Ochronotic arthropathy. A review with four case reports. J Bone Joint Surg Br 1970;52:653-66. Zannoni VG, Lomtevas N, Goldfinger S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta 1969;177:94-105.
  • Balaban B, Taskaynatan M, Yasar E, Tan K, Kalyon T. Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. Clin Rheumatol 2006;25:59860
  • La Du BN. Are we ready to try to cure alkaptonuria? Am J Hum Genet 1998;62:765-7.
There are 16 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Ramazan Kahveci This is me

Mehmet Fikret Ergungor This is me

Ahmet Gunaydin This is me

Atiye Temiz This is me

Publication Date April 26, 2013
Published in Issue Year 2013 Volume: 47 Issue: 2

Cite

APA Kahveci, R., Ergungor, M. F., Gunaydin, A., Temiz, A. (2013). Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica Et Traumatologica Turcica, 47(2), 134-138.
AMA Kahveci R, Ergungor MF, Gunaydin A, Temiz A. Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica. April 2013;47(2):134-138.
Chicago Kahveci, Ramazan, Mehmet Fikret Ergungor, Ahmet Gunaydin, and Atiye Temiz. “Alkaptonuric Patient Presenting With ‘black’ Disc: A Case Report”. Acta Orthopaedica Et Traumatologica Turcica 47, no. 2 (April 2013): 134-38.
EndNote Kahveci R, Ergungor MF, Gunaydin A, Temiz A (April 1, 2013) Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica 47 2 134–138.
IEEE R. Kahveci, M. F. Ergungor, A. Gunaydin, and A. Temiz, “Alkaptonuric patient presenting with ‘black’ disc: a case report”, Acta Orthopaedica et Traumatologica Turcica, vol. 47, no. 2, pp. 134–138, 2013.
ISNAD Kahveci, Ramazan et al. “Alkaptonuric Patient Presenting With ‘black’ Disc: A Case Report”. Acta Orthopaedica et Traumatologica Turcica 47/2 (April 2013), 134-138.
JAMA Kahveci R, Ergungor MF, Gunaydin A, Temiz A. Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica. 2013;47:134–138.
MLA Kahveci, Ramazan et al. “Alkaptonuric Patient Presenting With ‘black’ Disc: A Case Report”. Acta Orthopaedica Et Traumatologica Turcica, vol. 47, no. 2, 2013, pp. 134-8.
Vancouver Kahveci R, Ergungor MF, Gunaydin A, Temiz A. Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica. 2013;47(2):134-8.