Lizozomal Depo Hastalıkları
Özet
Lizozomal depo hastalıkları, vücutta çeşitli enzimlerin eksikliği veya proteinlerin hatalı çalışması sonucu ortaya çıkan, hücre içi atıkların birikmesiyle karakterize kronik ve ilerleyici genetik bozukluklardır. Gaucher, Niemann-Pick ve Fabry gibi türleri bulunan bu hastalıklar, karaciğer ve dalak büyümesi, nörolojik gerileme ve kemik hasarları gibi sistemik belirtilerle kendisini gösterir. Tanı sürecinde enzim analizleri ve moleküler genetik testler belirleyiciyken, tedavi yöntemleri arasında enzim yerine koyma, substrat azaltma ve kök hücre nakli gibi seçenekler yer almaktadır.
Lysosomal storage diseases are chronic and progressive genetic disorders characterized by the accumulation of intracellular waste due to enzyme deficiencies or protein dysfunctions. These diseases, including Gaucher, Niemann-Pick, and Fabry, manifest through systemic symptoms such as hepatosplenomegaly, neurological regression, and bone damage. While enzyme analysis and molecular genetic testing are definitive for diagnosis, treatment options involve enzyme replacement therapy, substrate reduction, and hematopoietic stem cell transplantation.
Referanslar
Bilgin Yüksel. Sfingolipidozlar ve Oligosakkaridozlar. In: Enver Hasanoğlu, Ruhan Düşünsel, Aysun Bideci (eds). Temel Pediatri, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2010:573-576.
Fatih Süheyl Ezgü. Mukopolisakkaridozlar, Lizozomal Transport Bozuklukları. In: Enver Hasanoğlu, Ruhan Düşünsel, Aysun Bideci (eds). Temel Pediatri, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2010:576-580.
Jones S, Wijburg F. Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders. In: Saudubray JM, Baumgartner MR, Walter J (eds). Inborn Metabolic Diseases: Diagnosis and Treatment, 6th ed, Berlin, Heidelberg: Springer, 2016:577-591.
Karaca M, Kılıç M, Karaca Ş, Özgül RK. Mukopolisakkaridozların Kliniği ve Moleküler Genetiği. J LSD. 2012;4:18-31.
Kılıç M, Aydın HI. Doğumsal Metabolik Hastalıklarda Hücresel Tedavi Yaklaşımı. Turkiye Klinikleri J Med Oncol-Special Topics. 2014;7:46-57.
Krivit W, Peters C, Shapiro EG. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol. 1999;12:167-176.
McGovern MM, Desnick RJ. Lipidoses (Lysosomal Storage Disorders)/Mucolipidoses. In: Kliegman RM, Stanton BF, Schor NF, St Geme JW, Behrman RE (eds). Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier Inc, 2016:705-715.
McGovern MM, Desnick RJ. Disorders of Glycoprotein Degradation and Structure. In: Kliegman RM, Stanton BF, Schor NF, St Geme JW, Behrman RE (eds). Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier Inc, 2016:734-735.
Mustafa Kılıç. Mukopolisakkaridoz Tip VI hastalarında enzim replasman tedavisi sonuçları. Hacettepe Üniversitesi Çocuk Metabolizma Hastalıkları Yandal Uzmanlık Tezi, Tez danışmanı: Prof. Dr. H. Serap Sivri, Ankara, 2011.
Mustafa Kılıç. Enzim Tedavisi. In: Turgay Coşkun, Murat Yurdakök (eds). Yenidoğanda Kalıtsal Metabolik Hastalıklar, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2014:473-483.
Mustafa Kılıç. Lizozomal Depo Hastalıkları. In: Murat Yurdakök (ed). Yurdakök Pediatri, 1. Baskı, Ankara: Güneş Tıp Kitabevleri, 2017:1791-1813.
Niaudet P. Cystinosis. In: Saudubray JM, Baumgartner MR, Walter J (eds). Inborn Metabolic Diseases: Diagnosis and Treatment, 6th ed, Berlin, Heidelberg: Springer, 2016:623-630.
Nyhan WL, Barshop BA, Al-Aqeel AI. Mucopolysaccharidoses. In: Nyhan WL, Barshop BA, Al-Aqeel AI (eds). Atlas of Inherited Metabolic diseases, 2nd ed, New York: Oxford University Press, 2011:501-551.
Nyhan WL, Barshop BA, Al-Aqeel AI. Mucolipidoses. In: Nyhan WL, Barshop BA, Al-Aqeel AI (eds). Atlas of Inherited Metabolic diseases, 2nd ed, New York: Oxford University Press, 2011:553-566.
Nyhan WL, Barshop BA, Al-Aqeel AI. Lipid Storage Disorders. In: Nyhan WL, Barshop BA, Al-Aqeel AI (eds). Atlas of Inherited Metabolic diseases, 2nd ed, New York: Oxford University Press, 2011:593-699.
Pastores GM, Hughes DA. Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments. Best Pract Res Clin Endocrinol Metab. 2015;29:173-182.
Pastores GM, Maegawa GHB. Neuropathic Lysosomal Storage Disorders. Neurol Clin. 2013 (31):1051-1071.
Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, Stanton BF, Schor NF, St Geme JW, Behrman RE (eds). Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier Inc, 2016:737-744.
Tolunay Baykal, Gülden Hüner. Lizozomal Depo Hastalıkları. In: Olcay Neyzi, Türkan Ertuğrul (eds). Pediatri, 3. Baskı, İstanbul: Nobel Tıp Kitabevleri, 2002:720-730.
Vanier MT, Caillaud C, Levade T. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses. In: Saudubray JM, Baumgartner MR, Walter J (eds). Inborn Metabolic Diseases: Diagnosis and Treatment, 6th ed, Berlin, Heidelberg: Springer, 2016:551-577.
Winchester B. Lysosomal diseases: diagnostic update. J Inherit Metab Dis. 2014 (37):599-608.
