Araştırma Makalesi

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

Cilt: 47 Sayı: 2 26 Nisan 2013
  • Ramazan Kahveci
  • Mehmet Fikret Ergungor
  • Ahmet Gunaydin
  • Atiye Temiz
PDF İndir
TR EN

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

Öz

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.

Anahtar Kelimeler

Kaynakça

  1. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902;2:1616-20.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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
  7. 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.
  8. 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.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Araştırma Makalesi

Yazarlar

Ramazan Kahveci Bu kişi benim

Mehmet Fikret Ergungor Bu kişi benim

Ahmet Gunaydin Bu kişi benim

Atiye Temiz Bu kişi benim

Yayımlanma Tarihi

26 Nisan 2013

Gönderilme Tarihi

7 Mart 2014

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2013 Cilt: 47 Sayı: 2

Kaynak Göster

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. https://izlik.org/JA42UY35MA
AMA
1.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):134-138. https://izlik.org/JA42UY35MA
Chicago
Kahveci, Ramazan, Mehmet Fikret Ergungor, Ahmet Gunaydin, ve Atiye Temiz. 2013. “Alkaptonuric patient presenting with ‘black’ disc: a case report”. Acta Orthopaedica et Traumatologica Turcica 47 (2): 134-38. https://izlik.org/JA42UY35MA.
EndNote
Kahveci R, Ergungor MF, Gunaydin A, Temiz A (01 Nisan 2013) Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica 47 2 134–138.
IEEE
[1]R. Kahveci, M. F. Ergungor, A. Gunaydin, ve A. Temiz, “Alkaptonuric patient presenting with ‘black’ disc: a case report”, Acta Orthopaedica et Traumatologica Turcica, c. 47, sy 2, ss. 134–138, Nis. 2013, [çevrimiçi]. Erişim adresi: https://izlik.org/JA42UY35MA
ISNAD
Kahveci, Ramazan - Ergungor, Mehmet Fikret - Gunaydin, Ahmet - Temiz, Atiye. “Alkaptonuric patient presenting with ‘black’ disc: a case report”. Acta Orthopaedica et Traumatologica Turcica 47/2 (01 Nisan 2013): 134-138. https://izlik.org/JA42UY35MA.
JAMA
1.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, vd. “Alkaptonuric patient presenting with ‘black’ disc: a case report”. Acta Orthopaedica et Traumatologica Turcica, c. 47, sy 2, Nisan 2013, ss. 134-8, https://izlik.org/JA42UY35MA.
Vancouver
1.Ramazan Kahveci, Mehmet Fikret Ergungor, Ahmet Gunaydin, Atiye Temiz. Alkaptonuric patient presenting with “black” disc: a case report. Acta Orthopaedica et Traumatologica Turcica [Internet]. 01 Nisan 2013;47(2):134-8. Erişim adresi: https://izlik.org/JA42UY35MA