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X’E BAĞLI ADRENOLÖKODİSTROFİ (ALD) HASTALIĞI VE TEDAVİ SÜRECİNDE LORENZO’NUN YAĞI KULLANIMI

Yıl 2019, Cilt 8, Sayı 1, 154 - 159, 25.06.2019

Öz

X’e bağlı adrenolökodistrofi hastalığı (ALD), yağların beta oksidasyonundaki bozukluk sebebiyle çok uzun zincirli yağ asitlerinin (ÇUZYA) kanda birikimine sebep olan peroksizomal bir hastalık olarak bilinmektedir. Bu birikim santral sinir sistemini ve adrenal korteksi etkileyerek motor ve mental işlevlerde bozukluğa yol açmaktadır. Klinik spektrumda hızlı ilerleyen demiyelinizasyon veya yavaş ilerleyen miyelopatiden adrenal yetersizliğe kadar uzanmaktadır. En sık görülen formları; çocukluk dönemi serebral form, Addison ve Adrenomiyelonöropati (AMN)’dir. Tüm popülasyonda görülme sıklığı 1.3/100.000 olmakla birlikte, erkeklerde görülme sıklığı 1/20.000 olarak bildirilmektedir. Asemptomatik ALD hastalarında diyete oleik ve erusik asidin trigeliserit formlarını (yenilebilir form) içeren Lorenzo’nun Yağı’nın eklenmesi ile düzelme görülebilmektedir. Bu sebeple erken tanı ve teşhis büyük önem taşımaktadır.

Kaynakça

  • Berger J., Forss-Petter S., Eichler F.S. 2014. Pathophysiology of X-linked adrenoleukodystrophy, Biochimie; 98:135–142.
  • Berger J., Gärtner J. 2006. X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects, Biochimica et Biophysica Acta; 1763:1721–1732.
  • Craemer D.D., Van den Branden C., Fontaine M., et al. 1998. Effects of Lorenzo’s Oil on Peroxisomes in Healthy Mice, Prostaglandins Other Lipid Mediat.; 55:237-244.
  • Eichler F., Auborg P. 2008. Therapeutics of X-linked adrenoleukodystrophy, Drug Discov Today Ther Strateg.; 5(4).
  • Kemp S., Berger J., Aubourg P. 2012. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease; 1822(9):1465–1474.
  • Maier E.M., Kammerer S., Muntau A.C., et al. 2002. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation, Ann. Neurol.; 52:683–688.
  • Miller W.P., Rothman S.M., Nascene D., et al. 2011. Outcomes following allogenic hematopoetic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood;118:1971-8.
  • Moser H.W., Mahmood A., Raymond G.V. 2007. X-linked adrenoleukodystrophy, Nat. Clin. Pract. Neurol.; 3(3):140–151.
  • Moser H.W., Raymond G.V., Lu S.E., et al. 2005. Follow-up of 89 Asymptomatic Patients With Adrenoleukodystrophy Treated With Lorenzo’s Oil, Arch Neurol.; 62(7):1073-1080.
  • Moser H.W., Raymond G.V., Koehler W., et al. 2003. Evaluation of the Preventive Effect of Glyceryl Trioleate-Trierucate (“Lorenzo’s Oil”) Therapy in X-Linked Adrenoleukodystrophy: Results of Two Concurrent Trials, Peroxisomal Disorders and Regulation of Genes; 544:369-387.
  • Moser H.W., Smith K.D., Watkins P.A., et al. 2001. X-linked adrenoleukodystrophy, in: C.R. Scriver, A.L. Beaudet (Eds.), The metabolic and molecular bases of inherited disease; 8:3257–3301.
  • Moser H.W. 1993. Lorenzo oil therapy for adrenoleukodystrophy: a prematurely amplified hope, Ann Neurol; 34(2):121-2.
  • Olcay N., 2010. Peroksizmal Hastalıklar. Pediyatri; 885.
  • Öner, A.F., Özer, R., Anlar, Ö., vd. 1999. Adrenolökodistrofi (Addison – Schilder Hastalığı): İki Erkek Kardeş Sunumu, Van Tıp Dergisi; 6(2). Raymond, G.V. 2015. Rosenberg’s Molecular and Genetik Basis of Neurological and Psychiatric Disease; 5:713-24.
  • Senior, K. 2002. Lorenzo's oil may help to prevent ALD symptoms. Lancet Neurol;1(8), 468.
  • Shimozawa N. 2007. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis; 30(2):193.
  • Stradomska T.J., Drabko K., Moszczyńska E., et al. 2014. Monitoring of verylong-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stemcell transplantation and Lorenzo’s Oil, Folia Neuropathol; 52(2):159-163.
  • Stradomska T.J., Tylki-Szymańska A. 1996. Examination of very long chain fatty acids in diagnosis of X-linked adrenoleukodystrophy. Pediatr Pol; 71:197-201.
  • Suzuki Y., Imamura A., Shimozawa N., et al. 2001. Kondo N, The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil, Brain Dev.; 23:30-33.
  • Tenreiro, A.M.P., Lázaro, M.Á.P., Celda, R.A., et al. 2013. Tratamiento dietético de la adrenoleucodistrofia ligada a X:¿ es útil el aceite de Lorenzo?. Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinol Nutr; 60(1):37-39.
  • Terre'Blanche, G., Van der Walt, M.M., Bergh, J.J., et al. 2011. Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid-A case report. Lipids Health Dis; 10(1):152.
  • Unkring C.J., Schroeder R., Scharf R.E. 1994. Lorenzo’s oil and limphocytopenia. N Engl J Med.;330:577.
  • Van Geel B.M., Assies J., Wanders R.J., et al. 1997. X-linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy, J. Neurol. Neurosurg. Psychiatry; 63:4–14.
  • Yetimalar Y., Gürgör N., Ulutaş H., vd. 2002. Adrenomyelonöropati. İzmir Atatürk Eğitim Hastanesi Tıp Dergisi;40:53-56.
  • Zinkham W.H., Kickler T., Borel J., et al. 1993. Lorenzo’s oil and thrombocytopenia in patients with adrenoleukodystrophy. N Engl J Med; 328:1126-7.

X-LINKED ADRENOLEUKODYSTROPHY (ALD) DISEASE AND USAGE OF LORENZO'S OIL IN THE TREATMENT PROCESS

Yıl 2019, Cilt 8, Sayı 1, 154 - 159, 25.06.2019

Öz

X-linked adrenoleukodystrophy disease (ALD) is known as a peroxisomal disease which causes accumulation of very long-chain fatty acids (VLCFA) in the blood due to the deficiency in the beta oxidation of fats. This accumulation affects the central nervous system and adrenal cortex and causes deterioration in motor and mental functions. The clinical spectrum ranges from rapid progressive demyelination or slowly progressing myelopathy to adrenal insufficiency. The most common forms; childhood cerebral form, Addison and Adrenomyeloneuropathy (AMN). While the incidence in the whole population is 1.3/100.000, the incidence in men is reported to be 1/20.000. In patients with asymptomatic ALD, improvement can be seen with the addition of Lorenzo's Oil, which contains the triglyceride forms (edible form) of oleic and erucic acid. Therefore, early diagnosis is crucial.

Kaynakça

  • Berger J., Forss-Petter S., Eichler F.S. 2014. Pathophysiology of X-linked adrenoleukodystrophy, Biochimie; 98:135–142.
  • Berger J., Gärtner J. 2006. X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects, Biochimica et Biophysica Acta; 1763:1721–1732.
  • Craemer D.D., Van den Branden C., Fontaine M., et al. 1998. Effects of Lorenzo’s Oil on Peroxisomes in Healthy Mice, Prostaglandins Other Lipid Mediat.; 55:237-244.
  • Eichler F., Auborg P. 2008. Therapeutics of X-linked adrenoleukodystrophy, Drug Discov Today Ther Strateg.; 5(4).
  • Kemp S., Berger J., Aubourg P. 2012. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease; 1822(9):1465–1474.
  • Maier E.M., Kammerer S., Muntau A.C., et al. 2002. Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation, Ann. Neurol.; 52:683–688.
  • Miller W.P., Rothman S.M., Nascene D., et al. 2011. Outcomes following allogenic hematopoetic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood;118:1971-8.
  • Moser H.W., Mahmood A., Raymond G.V. 2007. X-linked adrenoleukodystrophy, Nat. Clin. Pract. Neurol.; 3(3):140–151.
  • Moser H.W., Raymond G.V., Lu S.E., et al. 2005. Follow-up of 89 Asymptomatic Patients With Adrenoleukodystrophy Treated With Lorenzo’s Oil, Arch Neurol.; 62(7):1073-1080.
  • Moser H.W., Raymond G.V., Koehler W., et al. 2003. Evaluation of the Preventive Effect of Glyceryl Trioleate-Trierucate (“Lorenzo’s Oil”) Therapy in X-Linked Adrenoleukodystrophy: Results of Two Concurrent Trials, Peroxisomal Disorders and Regulation of Genes; 544:369-387.
  • Moser H.W., Smith K.D., Watkins P.A., et al. 2001. X-linked adrenoleukodystrophy, in: C.R. Scriver, A.L. Beaudet (Eds.), The metabolic and molecular bases of inherited disease; 8:3257–3301.
  • Moser H.W. 1993. Lorenzo oil therapy for adrenoleukodystrophy: a prematurely amplified hope, Ann Neurol; 34(2):121-2.
  • Olcay N., 2010. Peroksizmal Hastalıklar. Pediyatri; 885.
  • Öner, A.F., Özer, R., Anlar, Ö., vd. 1999. Adrenolökodistrofi (Addison – Schilder Hastalığı): İki Erkek Kardeş Sunumu, Van Tıp Dergisi; 6(2). Raymond, G.V. 2015. Rosenberg’s Molecular and Genetik Basis of Neurological and Psychiatric Disease; 5:713-24.
  • Senior, K. 2002. Lorenzo's oil may help to prevent ALD symptoms. Lancet Neurol;1(8), 468.
  • Shimozawa N. 2007. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis; 30(2):193.
  • Stradomska T.J., Drabko K., Moszczyńska E., et al. 2014. Monitoring of verylong-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stemcell transplantation and Lorenzo’s Oil, Folia Neuropathol; 52(2):159-163.
  • Stradomska T.J., Tylki-Szymańska A. 1996. Examination of very long chain fatty acids in diagnosis of X-linked adrenoleukodystrophy. Pediatr Pol; 71:197-201.
  • Suzuki Y., Imamura A., Shimozawa N., et al. 2001. Kondo N, The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil, Brain Dev.; 23:30-33.
  • Tenreiro, A.M.P., Lázaro, M.Á.P., Celda, R.A., et al. 2013. Tratamiento dietético de la adrenoleucodistrofia ligada a X:¿ es útil el aceite de Lorenzo?. Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinol Nutr; 60(1):37-39.
  • Terre'Blanche, G., Van der Walt, M.M., Bergh, J.J., et al. 2011. Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid-A case report. Lipids Health Dis; 10(1):152.
  • Unkring C.J., Schroeder R., Scharf R.E. 1994. Lorenzo’s oil and limphocytopenia. N Engl J Med.;330:577.
  • Van Geel B.M., Assies J., Wanders R.J., et al. 1997. X-linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy, J. Neurol. Neurosurg. Psychiatry; 63:4–14.
  • Yetimalar Y., Gürgör N., Ulutaş H., vd. 2002. Adrenomyelonöropati. İzmir Atatürk Eğitim Hastanesi Tıp Dergisi;40:53-56.
  • Zinkham W.H., Kickler T., Borel J., et al. 1993. Lorenzo’s oil and thrombocytopenia in patients with adrenoleukodystrophy. N Engl J Med; 328:1126-7.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Bilimleri ve Hizmetleri
Bölüm Sağlık Bilimleri
Yazarlar

Ayşe Hümeyra İSLAMOĞLU (Sorumlu Yazar)
MARMARA ÜNİVERSİTESİ
0000-0002-2138-5996
Türkiye

Yayımlanma Tarihi 25 Haziran 2019
Yayınlandığı Sayı Yıl 2019, Cilt 8, Sayı 1

Kaynak Göster

APA İslamoğlu, A. H. (2019). X’E BAĞLI ADRENOLÖKODİSTROFİ (ALD) HASTALIĞI VE TEDAVİ SÜRECİNDE LORENZO’NUN YAĞI KULLANIMI . Ankara Sağlık Bilimleri Dergisi , 8 (1) , 154-159 . Retrieved from https://dergipark.org.tr/tr/pub/ausbid/issue/46310/544896