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Pelin Zorlu; Şit Uçar; Neşe Yaralı; Fulya Demirçeken

doi:10.5472/MMJ.2013.02845.2

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Year 2014, Volume: 27 Issue: 1, 54 - 57, 30.09.2015

Pelin Zorlu Şit Uçar Neşe Yaralı Fulya Demirçeken

Abstract

Niemann-Pick disease is an autosomal recessively inherited group of congenital lipidoses in which sphingolipids accumulate in certain tissues, especially reticuloendothelial cells. The clinical phenotype is extremely variable, ranging from an acute neonatal form, to an adult late-onset form. We presented two patients who admitted to our clinic with hepatosplenomegaly and diagnosed as Niemann-Pick disease type A and type B.

Keywords

Lipid storage disease, Niemann-Pick disease, Sphingomyelinase.

References

1. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007; 30: 654-63. doi: 10.1007/s10545-007-0632-9.
2. Wasserstein MP, Desnick RJ, Schuchman EH, et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004; 114: 672-7. doi: 10.1542/ peds.2004.0887.
3. Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients. Medicine (Baltimore). 1958; 37:1-5.
4. McGovern MM, Desnick RJ. Defects in metabolism of lipids; Lipidoses (Lyposomal Storage Disorders). In: Kliegman RM, Stanton BF, St.Geme JW, Schor NF, Behrman RE, editors. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: WB Saunders Company, 2011: 488.
5. Chang TY, Reid PC, Sugii S, Ohgami N, Cruz JC, Chang CC. Niemann-Pick type C disease and intracellular cholesterol trafficking. J Biol Chem 2005; 280: 20917-20. doi: 10.1074/jbcR4000040200.
6. Vanier MT. Niemann-Pick diseases. Handb Clin Neurol 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1.
7. Mussig K, Harzer K, Mayrhofer H, Krageloh-Mann I, Haring HU, Machicao F. Clinical findings in Niemann-Pick disease type B. Intern Med J 2006; 36: 135-6. doi: 10.1111/j.1445-5994.2004.01013.x.
8. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med 2013;15:618-23. doi: 10.1038/gim.2013.4.
9. McGovern MM, Pohl-Worgall T, Deckelbaum RJ, et al. Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr 2004; 145: 77-81. doi: 10.1016/j.jpeds.2004.02.048).
10. Verot L, Chikh K, Freydiere E, Honore R, Vanier MT, Millat G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet 2007; 71: 320-30. doi: 10.1111/j.1399. 0004.2007. 00782.x.
11. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, Mc Govern MM. Growth restriction in children with type B Niemann-Pick disease. J Pediatr 2003; 142: 424-8. doi: 10.1067/ mpd.2003.113.
12. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophtalmotalogy 2004; 111: 1424-7. doi: 10.1016/j. ophtha.2003.10.034.
13. Suzuki O, Abe M. Secondary sea-blue histiocytosis derived from Niemann-Pick disease. J Clin Exp Hematop 2007; 47: 19-21. doi: 10.3960/jslrt.47.19.
14. Mendelson DS, Wasserstein MP, Desnick RJ, et al. Type B NiemannPick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology 2006; 238: 339-45. doi: 10.1148/radiol. 2381041696.
15. Victor S, Coulter JB, Besley GT, et al. Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis 2003; 26: 775-85.
16. Shah AJ, Kapoor N, Crooks GM, et al. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics 2005; 116: 1022-5. doi: 10.1542/peds.2005-0867.
17. Ginocchio VM, D’Amico A, Bertini E, et al. Efficacy of miglustat in Niemann-Pick C disease: A single centre experience. Mol Genet Metab 2013;110:329-35. doi:pii: S1096-7192(13)00267-9. 10.1016/ j.ymgme.2013.07.019.
18. Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009; 98: 243-9. doi: 10.1016/j.ymgme.2009.07.003.

Niemann-Pick hastalığı tip A ve tip B: İki olgu sunumu

Year 2014, Volume: 27 Issue: 1, 54 - 57, 30.09.2015

Pelin Zorlu Şit Uçar Neşe Yaralı Fulya Demirçeken

Abstract

Niemann-Pick hastalığı, belirli dokularda, özellikle retiküloendotelyel
hücrelerde, sfingolipidlerin biriktiği, konjenital lipidoz grubundan
otozomal resesif kalıtılan bir hastalıktır. Klinik fenotip olarak akut
neonatal formdan geç başlangıçlı erişkin forma kadar aralığı oldukça
değişkendir. Karaciğer ve dalak büyüklüğü şikayetiyle kliniğimize
başvuran Niemann-Pick hastalığı tip A ve tip B tanıları alan iki hasta
sunuldu.

Keywords

Lipid depo hastalığı, Niemann-Pick hastalığı, Sfingomyelinaz

References

1. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007; 30: 654-63. doi: 10.1007/s10545-007-0632-9.
2. Wasserstein MP, Desnick RJ, Schuchman EH, et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004; 114: 672-7. doi: 10.1542/ peds.2004.0887.
3. Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients. Medicine (Baltimore). 1958; 37:1-5.
4. McGovern MM, Desnick RJ. Defects in metabolism of lipids; Lipidoses (Lyposomal Storage Disorders). In: Kliegman RM, Stanton BF, St.Geme JW, Schor NF, Behrman RE, editors. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: WB Saunders Company, 2011: 488.
5. Chang TY, Reid PC, Sugii S, Ohgami N, Cruz JC, Chang CC. Niemann-Pick type C disease and intracellular cholesterol trafficking. J Biol Chem 2005; 280: 20917-20. doi: 10.1074/jbcR4000040200.
6. Vanier MT. Niemann-Pick diseases. Handb Clin Neurol 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1.
7. Mussig K, Harzer K, Mayrhofer H, Krageloh-Mann I, Haring HU, Machicao F. Clinical findings in Niemann-Pick disease type B. Intern Med J 2006; 36: 135-6. doi: 10.1111/j.1445-5994.2004.01013.x.
8. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med 2013;15:618-23. doi: 10.1038/gim.2013.4.
9. McGovern MM, Pohl-Worgall T, Deckelbaum RJ, et al. Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr 2004; 145: 77-81. doi: 10.1016/j.jpeds.2004.02.048).
10. Verot L, Chikh K, Freydiere E, Honore R, Vanier MT, Millat G. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet 2007; 71: 320-30. doi: 10.1111/j.1399. 0004.2007. 00782.x.
11. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, Mc Govern MM. Growth restriction in children with type B Niemann-Pick disease. J Pediatr 2003; 142: 424-8. doi: 10.1067/ mpd.2003.113.
12. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophtalmotalogy 2004; 111: 1424-7. doi: 10.1016/j. ophtha.2003.10.034.
13. Suzuki O, Abe M. Secondary sea-blue histiocytosis derived from Niemann-Pick disease. J Clin Exp Hematop 2007; 47: 19-21. doi: 10.3960/jslrt.47.19.
14. Mendelson DS, Wasserstein MP, Desnick RJ, et al. Type B NiemannPick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology 2006; 238: 339-45. doi: 10.1148/radiol. 2381041696.
15. Victor S, Coulter JB, Besley GT, et al. Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis 2003; 26: 775-85.
16. Shah AJ, Kapoor N, Crooks GM, et al. Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B. Pediatrics 2005; 116: 1022-5. doi: 10.1542/peds.2005-0867.
17. Ginocchio VM, D’Amico A, Bertini E, et al. Efficacy of miglustat in Niemann-Pick C disease: A single centre experience. Mol Genet Metab 2013;110:329-35. doi:pii: S1096-7192(13)00267-9. 10.1016/ j.ymgme.2013.07.019.
18. Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009; 98: 243-9. doi: 10.1016/j.ymgme.2009.07.003.

There are 18 citations in total.

Details

Primary Language	tr.
Journal Section	Articles
Authors	Pelin Zorlu This is me Şit Uçar Neşe Yaralı This is me Fulya Demirçeken This is me
Publication Date	September 30, 2015
Published in Issue	Year 2014 Volume: 27 Issue: 1

Cite

APA	Zorlu, P., Uçar, Ş., Yaralı, N., Demirçeken, F. (2015). -. Marmara Medical Journal, 27(1), 54-57. https://doi.org/10.5472/MMJ.2013.02845.2
AMA	Zorlu P, Uçar Ş, Yaralı N, Demirçeken F. -. Marmara Med J. September 2015;27(1):54-57. doi:10.5472/MMJ.2013.02845.2
Chicago	Zorlu, Pelin, Şit Uçar, Neşe Yaralı, and Fulya Demirçeken. “-”. Marmara Medical Journal 27, no. 1 (September 2015): 54-57. https://doi.org/10.5472/MMJ.2013.02845.2.
EndNote	Zorlu P, Uçar Ş, Yaralı N, Demirçeken F (September 1, 2015) -. Marmara Medical Journal 27 1 54–57.
IEEE	P. Zorlu, Ş. Uçar, N. Yaralı, and F. Demirçeken, “-”, Marmara Med J, vol. 27, no. 1, pp. 54–57, 2015, doi: 10.5472/MMJ.2013.02845.2.
ISNAD	Zorlu, Pelin et al. “-”. Marmara Medical Journal 27/1 (September 2015), 54-57. https://doi.org/10.5472/MMJ.2013.02845.2.
JAMA	Zorlu P, Uçar Ş, Yaralı N, Demirçeken F. -. Marmara Med J. 2015;27:54–57.
MLA	Zorlu, Pelin et al. “-”. Marmara Medical Journal, vol. 27, no. 1, 2015, pp. 54-57, doi:10.5472/MMJ.2013.02845.2.
Vancouver	Zorlu P, Uçar Ş, Yaralı N, Demirçeken F. -. Marmara Med J. 2015;27(1):54-7.