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Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu

Year 2009, Volume: 44 Issue: 1, - , 01.03.2009

Abstract

Olgu

References

  • Walkinshaw S. Non-immune hydrops fetalis (chapter 17). In: Twi- ning P, McHugo JM, Pilling DW, (eds). Textbook of fetal abnorma- lities. London: Churchill Livingstone, 2000: 422-7.
  • Cassady G. Hydrops fetalis. E-medicine 2004 (www.emedicine.com).
  • Kooper AJA, Janssens PMW, Groot ANJA, et al. Lysosomal stora- ge diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta 2006; 371: 176-82.
  • Norton ME. Non-immune hydrops fetalis. Semin Perinatol 1994; 18: 321-32.
  • Jones DC. Non-immune hydrops: diagnosis and obstetrical ma- nagement. Semin Perinatol 1995; 19: 447-61.
  • Enns GM, Steiner RD. (Çev. Akça T). Lizozomal depo hastalıkları. In: Osborn LM, DeWitt TG, First LR, Zenel JA, (eds). Pediatri. (Çev. ed. Yurdakök M). İstanbul: Güneş Kitapevi, 2007: 1007-12.
  • Nair PCM, Wali Y, Zechariah M, Al-Lamki Z. Hemophagocytic lymphohistiocytosis (HLH) presenting on 3rd day of life. Indian J Pediatr, 2001; 68: 995-7.
  • Step SE, Lagelouse RD, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999; 286: 1957-9.
  • Malloy CA, Polinski C, Alkan S, Manera R, Challapalli M. Hemop- hagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. J Perinatol 2004; 24: 458-60.
  • Machin GA. Hydrops revisited: literature review of 1414 cases published in the 1980s. Am J Med Genet 1989; 34: 366-90.
  • Groener JE, de Graff FL, Poorthuis BJ, Kanhai HH. Prenatal diag- nosis of lysosomal storage diseases in non-immune hydrops feta- lis. J Inherit Metab Dis 1999; 19: 930-3.
  • Levendoglu-Tugal O, Ozkaynak MF, LaGamma E, Sherbany A, Sandoval C, Jayabose S. Hemophagocytic lymphohistiocytosis presenting with thrombocytopenia in the newborn. J Pediatr He- matol Oncol 2002; 24: 405-9.
  • Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemopha- gocytic lypmhohistiocytosis. The FHL study group of the Histiocy- te Society. Semin Oncol 1991; 18: 29-33.
  • Hemophagocytic lypmhohistiocytosis study group. Histiocyte So- ciety. Treatment protocol of the Second International HLH Study 2004 (HLH-2004).
  • Hui WH, Ng DKK, Kwok KL, Lam YY. Hemophagocytic lypmho- histiocytosis in an infant: Important aspects in management. HK J Paediatr 2007; 12: 205-11.
  • Lemyre E, Russo P, Melançon SB, et al. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 1999; 82: 385-91.
  • Lowden JA. Approaches to the diagnosis and management of in- fants and children with lysosomal storage disease. In: Kaback MM (ed). Genetic issues in pediatrics and perinatology. Chicago: Me- dical Year Book Publishers, 1981: 267-305.
  • TTüürrkk PPeedd AArrşş 22000099;; 4444:: 3388--4400
  • TTuurrkk AArrcchh PPeedd 22000099;; 4444:: 3388--4400
  • Hidrops fetalisli yenidoğan

A newborn with hydrops fetalis diagnosed antenatally Case of the Month

Year 2009, Volume: 44 Issue: 1, - , 01.03.2009

Abstract

Cystic fibrosis and alpha 1 antitrypsin deficiency are two important autosomal recessive multi organ diseases They are complex and severe diseases that involve various organs including pancreas Pancreatic disease in cystic fibrosis varies from complete loss of exocrine and endocrine functions to nearly normal pancreatic function A strong correlation between genotype and phenotype is recognized Pancreatic involvement is characterized by malabsorption of fat and protein and growth failure Fat malabsorption leads to special problems with the fat soluble vitamins Enzyme and fat soluble vitamin replacements are the milestones of the malabsorption treatment Gene therapy offers the best hope for a cure of cystic fibrosis Although an association between alpha1 antitrypsin deficiency and chronic pancreatitis has been reported in several case reports in prospective studies it has been shown that pancreatitis prevalence in patients with alpha1 antitrypsin deficiency was not different from that of healthy controls Thus it was concluded that alpha 1 antitrypsin deficiency was not related to the pathogenesis of idiopathic or hereditary chronic pancreatitis However protective role of alpha 1 antitrypsin against pancreatic auto digestion suggests that the deficiency of that protein may worsen the pancreatic disease rather than causing it Early detection and management of pancreatic insufficiency is essential to optimize health and outcomes in cystic fibrosis and alpha 1 antitrypsin deficiency patients Turk Arch Ped 2009; 44: 7 11 Key words: Alfa 1 antitripsin deficinecy cystic fibrosis pancreas

References

  • Walkinshaw S. Non-immune hydrops fetalis (chapter 17). In: Twi- ning P, McHugo JM, Pilling DW, (eds). Textbook of fetal abnorma- lities. London: Churchill Livingstone, 2000: 422-7.
  • Cassady G. Hydrops fetalis. E-medicine 2004 (www.emedicine.com).
  • Kooper AJA, Janssens PMW, Groot ANJA, et al. Lysosomal stora- ge diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta 2006; 371: 176-82.
  • Norton ME. Non-immune hydrops fetalis. Semin Perinatol 1994; 18: 321-32.
  • Jones DC. Non-immune hydrops: diagnosis and obstetrical ma- nagement. Semin Perinatol 1995; 19: 447-61.
  • Enns GM, Steiner RD. (Çev. Akça T). Lizozomal depo hastalıkları. In: Osborn LM, DeWitt TG, First LR, Zenel JA, (eds). Pediatri. (Çev. ed. Yurdakök M). İstanbul: Güneş Kitapevi, 2007: 1007-12.
  • Nair PCM, Wali Y, Zechariah M, Al-Lamki Z. Hemophagocytic lymphohistiocytosis (HLH) presenting on 3rd day of life. Indian J Pediatr, 2001; 68: 995-7.
  • Step SE, Lagelouse RD, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999; 286: 1957-9.
  • Malloy CA, Polinski C, Alkan S, Manera R, Challapalli M. Hemop- hagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. J Perinatol 2004; 24: 458-60.
  • Machin GA. Hydrops revisited: literature review of 1414 cases published in the 1980s. Am J Med Genet 1989; 34: 366-90.
  • Groener JE, de Graff FL, Poorthuis BJ, Kanhai HH. Prenatal diag- nosis of lysosomal storage diseases in non-immune hydrops feta- lis. J Inherit Metab Dis 1999; 19: 930-3.
  • Levendoglu-Tugal O, Ozkaynak MF, LaGamma E, Sherbany A, Sandoval C, Jayabose S. Hemophagocytic lymphohistiocytosis presenting with thrombocytopenia in the newborn. J Pediatr He- matol Oncol 2002; 24: 405-9.
  • Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemopha- gocytic lypmhohistiocytosis. The FHL study group of the Histiocy- te Society. Semin Oncol 1991; 18: 29-33.
  • Hemophagocytic lypmhohistiocytosis study group. Histiocyte So- ciety. Treatment protocol of the Second International HLH Study 2004 (HLH-2004).
  • Hui WH, Ng DKK, Kwok KL, Lam YY. Hemophagocytic lypmho- histiocytosis in an infant: Important aspects in management. HK J Paediatr 2007; 12: 205-11.
  • Lemyre E, Russo P, Melançon SB, et al. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 1999; 82: 385-91.
  • Lowden JA. Approaches to the diagnosis and management of in- fants and children with lysosomal storage disease. In: Kaback MM (ed). Genetic issues in pediatrics and perinatology. Chicago: Me- dical Year Book Publishers, 1981: 267-305.
  • TTüürrkk PPeedd AArrşş 22000099;; 4444:: 3388--4400
  • TTuurrkk AArrcchh PPeedd 22000099;; 4444:: 3388--4400
  • Hidrops fetalisli yenidoğan
There are 20 citations in total.

Details

Primary Language Turkish
Journal Section When the Turkish word exists
Authors

Esin Yıldız Gök This is me

Emel Altuncu This is me

Muhammed Karabulut This is me

Sultan Kavuncuoğlu This is me

Fahrettin Uysal This is me

Hilal Serap Arslan This is me

Publication Date March 1, 2009
Published in Issue Year 2009 Volume: 44 Issue: 1

Cite

APA Gök, E. Y., Altuncu, E., Karabulut, M., Kavuncuoğlu, S., et al. (2009). Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu. Türk Pediatri Arşivi, 44(1).
AMA Gök EY, Altuncu E, Karabulut M, Kavuncuoğlu S, Uysal F, Arslan HS. Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu. Türk Pediatri Arşivi. March 2009;44(1).
Chicago Gök, Esin Yıldız, Emel Altuncu, Muhammed Karabulut, Sultan Kavuncuoğlu, Fahrettin Uysal, and Hilal Serap Arslan. “Antenatal tanılı Hidrops Fetalisli yenidoğan Ayın Olgusu”. Türk Pediatri Arşivi 44, no. 1 (March 2009).
EndNote Gök EY, Altuncu E, Karabulut M, Kavuncuoğlu S, Uysal F, Arslan HS (March 1, 2009) Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu. Türk Pediatri Arşivi 44 1
IEEE E. Y. Gök, E. Altuncu, M. Karabulut, S. Kavuncuoğlu, F. Uysal, and H. S. Arslan, “Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu”, Türk Pediatri Arşivi, vol. 44, no. 1, 2009.
ISNAD Gök, Esin Yıldız et al. “Antenatal tanılı Hidrops Fetalisli yenidoğan Ayın Olgusu”. Türk Pediatri Arşivi 44/1 (March 2009).
JAMA Gök EY, Altuncu E, Karabulut M, Kavuncuoğlu S, Uysal F, Arslan HS. Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu. Türk Pediatri Arşivi. 2009;44.
MLA Gök, Esin Yıldız et al. “Antenatal tanılı Hidrops Fetalisli yenidoğan Ayın Olgusu”. Türk Pediatri Arşivi, vol. 44, no. 1, 2009.
Vancouver Gök EY, Altuncu E, Karabulut M, Kavuncuoğlu S, Uysal F, Arslan HS. Antenatal tanılı hidrops fetalisli yenidoğan Ayın Olgusu. Türk Pediatri Arşivi. 2009;44(1).