BibTex RIS Kaynak Göster

Yıl 2006, Cilt: 4 Sayı: 1, 146 - 152, 01.04.2006

Elif Özalkaya Tanju B. Özkan Gülin Erdemir Sema Aydoğdu

Öz

Kaynakça

  • Alagille D, Habib EC. Thomassin N. L'atresie des voies biliaries extrahe- patiques permeables chez I'enfant. J Par Pediatr 1969; 301-18.
  • Watson GH, Miller V. Arteriohepatic dysplasia: familial pulmonary arte- rial stenosis with neonatal liver disease. Arch Dis Child 1973; 48:459-66.
  • David A. Picolli. Alagille syndrome. In: F.J. Suchy, R.J. Sokol, W.F. Balıstrerı(eds.) Liver Disease In Children 2nd edition. Phildelphia: Lippincott, Williams &Wilkins; 2001.p.327-42.
  • Vergani GM. Biliary atresia and neonatal disorders of the bile ducts. In: Wyllie R, Hyams JS (eds). Pediatric Gastrointestinal and Liver Disease. 3th edition. Netherland: Saunders, Elsevier; 2006.p.869-81.
  • Oda T, Elkahloun AG, Pike BL, et. al. Mutations in the human Jagged1 gene are responsible for Alagille Syndrome. Nat Genet 1997;16: 235- 42.
  • Li L, Krantz ID, Deng Y, et.al. Alagille syndrome is caused by mutations in human Jageed1, which encodes a ligand for Notch 1. Nat Genet 1997; 16:243-51.
  • Zimrin AB, Pepper MS, McMahon GA, et.al. An antisense oligonucleotide to the Notch ligand Jagged enhances fibroblast growth factor-ınduced angiogenesis in vitro. J Biol Chem 1996; 271:32499-502.
  • Krantz ID, Colliton RP, Genin A, et. al. Spectrum and frequency of Jagged 1 mutations in Alagille syndrome patients and their families. Am J Hum Genet 1998; 62:1361-9.
  • Crosnier C, Driancourt C, Raynaud N, et.al. Mutations in Jagged 1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 1999; 116:1141.
  • Spinner NB, Collition RP,Crosnier C, Krantz ID, Hadchouel M and Me- unier- Rotival M. Jagged 1 mutations in Alagille syndrome. Hum Mutat 2001; 17:18-33.
  • Artavanis-Tsakonas S. Alagille syndrome. Anotch up for the Notch re- ceptor. Nat Genet 1997; 16:212-3.
  • Joutel A, Tournier-Lasserve E. Notch signalling pathway and human di- seases. Semin Cell Dev Biol 1998; 9:619-25.
  • Artavanis-Tsakonas S, Rand MD, Lake RJ. Notch signaling: cell fate control and signal integration in development. Science 1999; 284:770-6.
  • Morissette JJD, Colliton RP and Spinner NB. Defective intracelluler transport and processing of Jag1 missense mutations in Alagille syndrome. Hum Mol Genet 2001; 10:405-13.
  • Loomes KM, Underkoffler LA, Morabito J.et. Al. The expression of Jag- ged 1 in the developing mammalian heart correlates with cardiovascu- lar disease in Alagille syndrome. Hum Mol Genet 1999; 8:2443-9.
  • Louis AA, Van Eyken P, Haber BA, et. Al. Hepatic jagged1 expression studies. Hepatology 1999; 30:1269-75.
  • Gridley T. Notch signaling and inherited disease syndromes. Human molecular genetics 2003; 12:9-13.
  • Kohsaka T, Yuan ZR, Guo SX, et al. The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. He- patology 2002; 36:904-12.
  • Rand EB. The genetic basis of the Alagille syndrome. J Pediatr Gastro- enterol Nutr 1998; 26:234-6.
  • Krantz ID, Smith R, Collition RP, Tinkel H, Zackai HE, Picolli DA, Gold- muntz E, Spinner NB. Jagged mutations in patients ascertained with isolated congeniatal heart defects. Am J Genet 1999; 84:56-60.
  • Alagille D, Estrada A, Hadchouel M. et. Al. Syndromic paucity of inter- lobuler bile ducts (Alagille syndrome or arteriohepatic dysplasia); revi- ew of 80 cases. J. Pediatr 1987; 110:195-200.
  • Emerick KM, Rand EB, Goldmuntz E, et. Al. Features of Alagille syndro- me in 92 patients : frequency and relation to prognosis. Hepatology 1999; 29:431-7.
  • Alagille D, Odievre M, Gautier M. Et. Al. Hepatic ductuler hypoplasia as- sociated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pedi- atr 1975; 86:63-71.
  • Kahn E. Paucity of interlobular bile ducts: arteriohepatic dysplasia and nonsyndromic duct paucity. Perspectives in Pediatr Patology 1991; 14:168-215.
  • Trem WR, Krzymowski GA, Cartun RW, et. al. Cytokeratin immunohis- tochemical examination of liver biopsies in infant with Alagille syndro- me and biliary atresia. J. Pediatr Gastroenterol Nutr 1992; 15:73-80.
  • Quitros- Tejeria RE, Ament ME, Heyman MB, et. al. Variable morbidity in Alagille syndrome: a review 43 cases. J. Pediatr Gastroenterol Nutr. 1999; 29:431-7.
  • L. Libbrecht , N.B. Spinner, E.C.Moore , D. Cassiman , RV Damme-Lom- baerts .Peripheral Bile Duct Paucity and Cholestasis in the Liver of a Patient With Alagille Syndrome. Am J Surg Pathol. 2005; 29:820-6.
  • Deprettere A, Portmann B, Mowat AP. Syndromic paucity of the intra- hepatic bile ducts: diagnostic difficulty-severe morbidity througthout early childhood. J. Pediatr Gastroenterol Nutr 1987; 6:865-71.
  • P. Lykavieris, M.Hadchouel, C. Chardot, O.Bernard. Outcome of liver di- sease in children with Alagille syndrome: a study of 163 patients. Gut. 2001; 49:431-5.
  • Hoffenberg EJ, Narkewicz MR, Sondheimer JM et. Al. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995; 127:220-4.
  • Tzakis AG, Reyes J, Tepetes K, et. al. Liver transplantation for Alagille's syndrome. Arch Surg 1993; 128: 337-9.
  • Andrews W, Sommeraur J, Roden J, et. Al. 10 years of pediatric liver transplantation. J Pediatr Surg 1996; 31:619-24.
  • Cardona J, Houssin D, Gauthier F, et. Al. Liver transplantation in child- ren with Alagille's syndrome: a study of twelve cases. Tranplantation 1995; 60:339-42.
  • R.Ganschow, E. Grabhorn, K.Helmke, X.Rogiers, and M. Burdelski. Liver Transplantation in Children with Alagille Syndrome. Transplantation Proceedings 2001; 33:3608-9.
  • Greenwood RD, Rosenthal A, Crocker AC, et. al. Syndrome of intrahe- patic biliary dysgenesis and cardiovascular malformations. Pediatrics 1976; 58:243-7.
  • Silberbach M, Lashley D, Reler MD, et. al. Arteriohepatic dysplasia and cardiovascular malformations. Am Heart J 1994; 127:695-9.
  • Hingorani M, Nischal KK, Davies A, et. al. Ocular abnormalities in Ala- gille Syndrome. Ophthalmol 1966; 75:307-18.
  • McDonald- McGinn DM, Kirschner R, Goldmuntz E, et.al. The Philidelp- hia story: the 22q11.2 deletion. Report on 250 patients. Genet Couns 1999; 10:11-24.
  • Johnson BL. Ocular pathologic fetures of arteriohepatic dysplasia. Am J Ophthalmol 1990; 110:504-2.
  • Nischal KK, Hingorani M, Bentley CR, et.al. Ocular ultrasound in Alagil- le syndrome: a new sign. Ophthalmology 1997; 104:79-85.
  • Romanchuk KG, Judisch GF, LaBrecque DR. Ocular findings in arteiohe- patic dysplasia . Can J Ophthalmol 1981; 16:94-9.
  • Berman MD, Ihsak KG, Schaefer EJ. et.al. Syndromic hepatic ductuler hypoplasia: a clinical and hepatic histologic study of three patients. Dig Dis Sci 1981; 26:485-97.
  • Berrocal T, Gamo E, Navalon J, et. al. Syndrome of Alagille: radiologi- cal and sonographic findings: a review of 37 cases. Eur Radiol 1997; 7:115-8.
  • Rosenfield NS, Kelley MJ, Jensen PS, et. al. Arteriohepatic dysplasia: radiologic features of a new syndrome. AJR Am J Roentgenol 1980; 135:1217-23.
  • Wolfish NM, Shanon A. Nephropathy in arteiohepatic dysplasia. Child Nephrol Urol 1988- 1989; 9:169-72.
  • Russo PA, Ellis D, Hashida Y. Renal histopathology in Alagille's syndro- me. Pediatr Pathol 1987; 7:557-68.
  • Chung- Park M, Petrelli M, Tavill AS. et. al. Renal lipidosis associated with arteriohepatic dysplasia. Clin Nephrol 1982; 18:314-20.
  • Stewart SM, Uauy R, Kennard BD. et. al. Mental development and growth in children with chronic liver disease of early and late onset. Pediatrics 1988; 82:167-72.
  • Sokol RJ, Guggenheim MA, Iannaccone ST. Et. al. Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis. N. Engl J Med 1985; 313:1580-6.
  • Rachmel A, Zeharia A, Neuman-Levin M. Alagille syndrome associated with Mayomayo disease. Am J Med Genet 1989; 33:89-91.
  • Devenyl AG, Barron TF, Mamourian AC. Dystonia, hyperinstense basal ganglia, and high whole blood manganase levels in Alagille's syndro- me. Gastroenterolgy 1994; 106:1068-71.
  • John HA, Loomes K, Weyler R, et.al. A study of pancreatic function in 17 children with Alagille syndrome. Gastroenterology 1998; 114:A885.

Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri

Yıl 2006, Cilt: 4 Sayı: 1, 146 - 152, 01.04.2006

Elif Özalkaya Tanju B. Özkan Gülin Erdemir Sema Aydoğdu

Öz

İlk olarak 1969'da Alagille ve arkadaşları idiopatik safra kanal azlığı olan hastalarda klinik bulguların benzer olduğunu saptamışlar ve diğer aile bireylerinde de bu paternin olduğunu bulmuşlardır 1 . Watson ve Miller 1975'de kardiyak hastalığı ve safra yollarında azalma olan çocuklarda sendromik yüz özellikleri tanımlamışlardır 2 .

Kaynakça

  • Alagille D, Habib EC. Thomassin N. L'atresie des voies biliaries extrahe- patiques permeables chez I'enfant. J Par Pediatr 1969; 301-18.
  • Watson GH, Miller V. Arteriohepatic dysplasia: familial pulmonary arte- rial stenosis with neonatal liver disease. Arch Dis Child 1973; 48:459-66.
  • David A. Picolli. Alagille syndrome. In: F.J. Suchy, R.J. Sokol, W.F. Balıstrerı(eds.) Liver Disease In Children 2nd edition. Phildelphia: Lippincott, Williams &Wilkins; 2001.p.327-42.
  • Vergani GM. Biliary atresia and neonatal disorders of the bile ducts. In: Wyllie R, Hyams JS (eds). Pediatric Gastrointestinal and Liver Disease. 3th edition. Netherland: Saunders, Elsevier; 2006.p.869-81.
  • Oda T, Elkahloun AG, Pike BL, et. al. Mutations in the human Jagged1 gene are responsible for Alagille Syndrome. Nat Genet 1997;16: 235- 42.
  • Li L, Krantz ID, Deng Y, et.al. Alagille syndrome is caused by mutations in human Jageed1, which encodes a ligand for Notch 1. Nat Genet 1997; 16:243-51.
  • Zimrin AB, Pepper MS, McMahon GA, et.al. An antisense oligonucleotide to the Notch ligand Jagged enhances fibroblast growth factor-ınduced angiogenesis in vitro. J Biol Chem 1996; 271:32499-502.
  • Krantz ID, Colliton RP, Genin A, et. al. Spectrum and frequency of Jagged 1 mutations in Alagille syndrome patients and their families. Am J Hum Genet 1998; 62:1361-9.
  • Crosnier C, Driancourt C, Raynaud N, et.al. Mutations in Jagged 1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 1999; 116:1141.
  • Spinner NB, Collition RP,Crosnier C, Krantz ID, Hadchouel M and Me- unier- Rotival M. Jagged 1 mutations in Alagille syndrome. Hum Mutat 2001; 17:18-33.
  • Artavanis-Tsakonas S. Alagille syndrome. Anotch up for the Notch re- ceptor. Nat Genet 1997; 16:212-3.
  • Joutel A, Tournier-Lasserve E. Notch signalling pathway and human di- seases. Semin Cell Dev Biol 1998; 9:619-25.
  • Artavanis-Tsakonas S, Rand MD, Lake RJ. Notch signaling: cell fate control and signal integration in development. Science 1999; 284:770-6.
  • Morissette JJD, Colliton RP and Spinner NB. Defective intracelluler transport and processing of Jag1 missense mutations in Alagille syndrome. Hum Mol Genet 2001; 10:405-13.
  • Loomes KM, Underkoffler LA, Morabito J.et. Al. The expression of Jag- ged 1 in the developing mammalian heart correlates with cardiovascu- lar disease in Alagille syndrome. Hum Mol Genet 1999; 8:2443-9.
  • Louis AA, Van Eyken P, Haber BA, et. Al. Hepatic jagged1 expression studies. Hepatology 1999; 30:1269-75.
  • Gridley T. Notch signaling and inherited disease syndromes. Human molecular genetics 2003; 12:9-13.
  • Kohsaka T, Yuan ZR, Guo SX, et al. The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. He- patology 2002; 36:904-12.
  • Rand EB. The genetic basis of the Alagille syndrome. J Pediatr Gastro- enterol Nutr 1998; 26:234-6.
  • Krantz ID, Smith R, Collition RP, Tinkel H, Zackai HE, Picolli DA, Gold- muntz E, Spinner NB. Jagged mutations in patients ascertained with isolated congeniatal heart defects. Am J Genet 1999; 84:56-60.
  • Alagille D, Estrada A, Hadchouel M. et. Al. Syndromic paucity of inter- lobuler bile ducts (Alagille syndrome or arteriohepatic dysplasia); revi- ew of 80 cases. J. Pediatr 1987; 110:195-200.
  • Emerick KM, Rand EB, Goldmuntz E, et. Al. Features of Alagille syndro- me in 92 patients : frequency and relation to prognosis. Hepatology 1999; 29:431-7.
  • Alagille D, Odievre M, Gautier M. Et. Al. Hepatic ductuler hypoplasia as- sociated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pedi- atr 1975; 86:63-71.
  • Kahn E. Paucity of interlobular bile ducts: arteriohepatic dysplasia and nonsyndromic duct paucity. Perspectives in Pediatr Patology 1991; 14:168-215.
  • Trem WR, Krzymowski GA, Cartun RW, et. al. Cytokeratin immunohis- tochemical examination of liver biopsies in infant with Alagille syndro- me and biliary atresia. J. Pediatr Gastroenterol Nutr 1992; 15:73-80.
  • Quitros- Tejeria RE, Ament ME, Heyman MB, et. al. Variable morbidity in Alagille syndrome: a review 43 cases. J. Pediatr Gastroenterol Nutr. 1999; 29:431-7.
  • L. Libbrecht , N.B. Spinner, E.C.Moore , D. Cassiman , RV Damme-Lom- baerts .Peripheral Bile Duct Paucity and Cholestasis in the Liver of a Patient With Alagille Syndrome. Am J Surg Pathol. 2005; 29:820-6.
  • Deprettere A, Portmann B, Mowat AP. Syndromic paucity of the intra- hepatic bile ducts: diagnostic difficulty-severe morbidity througthout early childhood. J. Pediatr Gastroenterol Nutr 1987; 6:865-71.
  • P. Lykavieris, M.Hadchouel, C. Chardot, O.Bernard. Outcome of liver di- sease in children with Alagille syndrome: a study of 163 patients. Gut. 2001; 49:431-5.
  • Hoffenberg EJ, Narkewicz MR, Sondheimer JM et. Al. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995; 127:220-4.
  • Tzakis AG, Reyes J, Tepetes K, et. al. Liver transplantation for Alagille's syndrome. Arch Surg 1993; 128: 337-9.
  • Andrews W, Sommeraur J, Roden J, et. Al. 10 years of pediatric liver transplantation. J Pediatr Surg 1996; 31:619-24.
  • Cardona J, Houssin D, Gauthier F, et. Al. Liver transplantation in child- ren with Alagille's syndrome: a study of twelve cases. Tranplantation 1995; 60:339-42.
  • R.Ganschow, E. Grabhorn, K.Helmke, X.Rogiers, and M. Burdelski. Liver Transplantation in Children with Alagille Syndrome. Transplantation Proceedings 2001; 33:3608-9.
  • Greenwood RD, Rosenthal A, Crocker AC, et. al. Syndrome of intrahe- patic biliary dysgenesis and cardiovascular malformations. Pediatrics 1976; 58:243-7.
  • Silberbach M, Lashley D, Reler MD, et. al. Arteriohepatic dysplasia and cardiovascular malformations. Am Heart J 1994; 127:695-9.
  • Hingorani M, Nischal KK, Davies A, et. al. Ocular abnormalities in Ala- gille Syndrome. Ophthalmol 1966; 75:307-18.
  • McDonald- McGinn DM, Kirschner R, Goldmuntz E, et.al. The Philidelp- hia story: the 22q11.2 deletion. Report on 250 patients. Genet Couns 1999; 10:11-24.
  • Johnson BL. Ocular pathologic fetures of arteriohepatic dysplasia. Am J Ophthalmol 1990; 110:504-2.
  • Nischal KK, Hingorani M, Bentley CR, et.al. Ocular ultrasound in Alagil- le syndrome: a new sign. Ophthalmology 1997; 104:79-85.
  • Romanchuk KG, Judisch GF, LaBrecque DR. Ocular findings in arteiohe- patic dysplasia . Can J Ophthalmol 1981; 16:94-9.
  • Berman MD, Ihsak KG, Schaefer EJ. et.al. Syndromic hepatic ductuler hypoplasia: a clinical and hepatic histologic study of three patients. Dig Dis Sci 1981; 26:485-97.
  • Berrocal T, Gamo E, Navalon J, et. al. Syndrome of Alagille: radiologi- cal and sonographic findings: a review of 37 cases. Eur Radiol 1997; 7:115-8.
  • Rosenfield NS, Kelley MJ, Jensen PS, et. al. Arteriohepatic dysplasia: radiologic features of a new syndrome. AJR Am J Roentgenol 1980; 135:1217-23.
  • Wolfish NM, Shanon A. Nephropathy in arteiohepatic dysplasia. Child Nephrol Urol 1988- 1989; 9:169-72.
  • Russo PA, Ellis D, Hashida Y. Renal histopathology in Alagille's syndro- me. Pediatr Pathol 1987; 7:557-68.
  • Chung- Park M, Petrelli M, Tavill AS. et. al. Renal lipidosis associated with arteriohepatic dysplasia. Clin Nephrol 1982; 18:314-20.
  • Stewart SM, Uauy R, Kennard BD. et. al. Mental development and growth in children with chronic liver disease of early and late onset. Pediatrics 1988; 82:167-72.
  • Sokol RJ, Guggenheim MA, Iannaccone ST. Et. al. Improved neurologic function after long-term correction of vitamin E deficiency in children with chronic cholestasis. N. Engl J Med 1985; 313:1580-6.
  • Rachmel A, Zeharia A, Neuman-Levin M. Alagille syndrome associated with Mayomayo disease. Am J Med Genet 1989; 33:89-91.
  • Devenyl AG, Barron TF, Mamourian AC. Dystonia, hyperinstense basal ganglia, and high whole blood manganase levels in Alagille's syndro- me. Gastroenterolgy 1994; 106:1068-71.
  • John HA, Loomes K, Weyler R, et.al. A study of pancreatic function in 17 children with Alagille syndrome. Gastroenterology 1998; 114:A885.
Toplam 52 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Collection
Yazarlar

Elif Özalkaya Bu kişi benim

Tanju B. Özkan Bu kişi benim

Gülin Erdemir Bu kişi benim

Sema Aydoğdu Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2006
Yayımlandığı Sayı Yıl 2006 Cilt: 4 Sayı: 1

Kaynak Göster

APA Özalkaya, E., Özkan, T. B., Erdemir, G., Aydoğdu, S. (2006). Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri. Güncel Pediatri, 4(1), 146-152.
AMA Özalkaya E, Özkan TB, Erdemir G, Aydoğdu S. Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri. Güncel Pediatri. Nisan 2006;4(1):146-152.
Chicago Özalkaya, Elif, Tanju B. Özkan, Gülin Erdemir, ve Sema Aydoğdu. “Çocukluk Çağı Kolestazında Alagille Sendromu Ve Ege Üniversitesi Tıp Fakültesi Verileri”. Güncel Pediatri 4, sy. 1 (Nisan 2006): 146-52.
EndNote Özalkaya E, Özkan TB, Erdemir G, Aydoğdu S (01 Nisan 2006) Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri. Güncel Pediatri 4 1 146–152.
IEEE E. Özalkaya, T. B. Özkan, G. Erdemir, ve S. Aydoğdu, “Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri”, Güncel Pediatri, c. 4, sy. 1, ss. 146–152, 2006.
ISNAD Özalkaya, Elif vd. “Çocukluk Çağı Kolestazında Alagille Sendromu Ve Ege Üniversitesi Tıp Fakültesi Verileri”. Güncel Pediatri 4/1 (Nisan 2006), 146-152.
JAMA Özalkaya E, Özkan TB, Erdemir G, Aydoğdu S. Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri. Güncel Pediatri. 2006;4:146–152.
MLA Özalkaya, Elif vd. “Çocukluk Çağı Kolestazında Alagille Sendromu Ve Ege Üniversitesi Tıp Fakültesi Verileri”. Güncel Pediatri, c. 4, sy. 1, 2006, ss. 146-52.
Vancouver Özalkaya E, Özkan TB, Erdemir G, Aydoğdu S. Çocukluk Çağı Kolestazında Alagille Sendromu ve Ege Üniversitesi Tıp Fakültesi Verileri. Güncel Pediatri. 2006;4(1):146-52.