SavedAdd your journal

Journals / Acta Orthopaedica et Traumatologica Turcica / 2013 / Cilt: 47 - Sayı: 2

“Siyah” disk ile ortaya çıkan sıradışı bir alkaptonüri olgusu

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

RAMAZAN KAHVECİ
Mehmet Fikret ERGÜNGÖR
Ahmet GÜNAYDIN
Atiye TEMIZ
Pages
134–138
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

Elevated urinary concentration of homogentisic acid confirmed the diagnosis.

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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.
📊
Key Findings & Data: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.
💡
Conclusion & Impact:Elevated urinary concentration of homogentisic acid confirmed the diagnosis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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.

Özet

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.

🔖

Cite This Article

KAHVECİ, R., ERGÜNGÖR, M. F., GÜNAYDIN, A., TEMIZ, A. (2013). “Siyah” disk ile ortaya çıkan sıradışı bir alkaptonüri olgusu. Acta Orthopaedica et Traumatologica Turcica, Cilt: 47 - Sayı: 2, 134–138. https://ajindex.com/articles/354399

References (15)

  1. Garrod AE. The incidence of alkaptonuria: a study in chem- ical 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: 19-24
  3. Milch RA. Studies of alkaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 1960;12:76-85
  4. Srsen S. Analysis of the causes of the relatively frequent inci- dence of alkaptonuria in Slovakia. [Article in Slovak] Cas Lek Cesk 1983;122:1585-7
  5. 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
  6. 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
  7. 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;30:1611-9
  8. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alka- ptonuria. N Engl J Med 2002;347:2111-21
  9. 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. 2109-23
  10. Goldsmith 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
  11. Reddy DR, Prasad VS. Alkaptonuria presenting as lumbar disc prolapse. A case report and review of the literature. Spinal Cord 1998;36:523-4
  12. 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
  13. Choudhury R, Rajamani SS, Rajshekhar V. A case of ochronosis: MRI of the lumbar spine. Neuroradiology 2000; 42:905-7
  14. Farzannia A, Ghaffar S, Hadidchi S. Alkaptonuria and lum- bar disc herniation. Report of three cases. J Neurosurg 2003; 98(1 Suppl):87-9
  15. Gürkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien) 2006;14