“Siyah” disk ile ortaya çıkan sıradışı bir alkaptonüri olgusu

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.

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

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

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.

9. Reddy DR, Prasad VS. Alkaptonuria presenting as lumbar disc prolapse. A case report and review of the literature. Spinal Cord 1998;36:523-4.
10. 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.
11. Choudhury R, Rajamani SS, Rajshekhar V. A case of ochronosis: MRI of the lumbar spine. Neuroradiology 2000; 42:905-7.
12. Farzannia A, Ghaffar S, Hadidchi S. Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg 2003; 98(1 Suppl):87-9.
13. Gürkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien) 2006;148:891-4.
14. 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.
15. Balaban B, Taskaynatan M, Yasar E, Tan K, Kalyon T. Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. Clin Rheumatol 2006;25:59860
16. La Du BN. Are we ready to try to cure alkaptonuria? Am J Hum Genet 1998;62:765-7.