The prenatal presentation of congenital erythropoietic porphyria: Report of two siblings with elevated maternal serum alpha-fetoprotein

Prenatal Diagnosis

Volumn 24, Issue 4, 2004, Pages 282-286

  Lazebnik, Noam ^a   Lazebnik, Roee S ^b  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b NONE

Author keywords

Abnormal maternal serum alpha fetoprotein; C73R mutation; Congenital erythropoietic porphyria; G nther's disease; Intrauterine diagnosis; Intrauterine transfusion

Indexed keywords

ALPHA FETOPROTEIN; PORPHYRIN;

ADULT; ALLELE; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAUCASIAN; CONGENITAL ERYTHROPOIETIC PORPHYRIA; FAMILY; FEMALE; FETUS; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INTRAUTERINE BLOOD TRANSFUSION; OUTCOMES RESEARCH; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RARE DISEASE; SIBLING; UROPORPHYRINOGEN III SYNTHASE GENE;

ADULT; ALPHA-FETOPROTEINS; AMNIOCENTESIS; BLOOD TRANSFUSION, INTRAUTERINE; FATAL OUTCOME; FEMALE; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PORPHYRIA, ERYTHROPOIETIC; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; TREATMENT OUTCOME; ULTRASONOGRAPHY, PRENATAL; UROPORPHYRINOGEN III SYNTHETASE;

EID: 1842733400     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.852     Document Type: Article

References (12)

1. Desnick RJ, Glass IA, Xu W, et al. 1998. Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis 18: 77-84.
2. Detti L, Oz U, Guney I, et al. 2001. Doppler ultrasound velocimetry for timing the second intrauterine transfusion in fetuses with anemia from red cell alloimmunization. Am J Obstet Gynecol 185: 1048-1051.
3. de Verneuil H, Bourgeois F, de Rooij F, et al. 1992. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Hum Genet 89: 548-552.
4. de Verneuil H, Moreau-Gaudry F, Ged C, et al. 1995. Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure. Arch Pediatr 8: 755-761.
5. Deybach JC, Grandchamp B, Grelier M, et al. 1980. Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum Genet 53: 217-221.
6. Ged C, Moreau-Gaudry F, Taine L, et al. 1996. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. Prenat Diagn 16: 83-86.
7. Kaiser IH. 1980. Brown amniotic fluid in congenital erythropoietic porphyria. Obstet Gynecol 56: 383-384.
8. Lienhardt A, Aubard Y, Laroch C, et al. 1999. A rare cause of fetal ascites: a case report of Günther's disease. Fetal Diagn Ther 14: 257-261.
9. Mari G, Deter RL, Carpenter RL, et al. Collaborative Group for Doppler Assessment of the Blood Velocity in Anemic Fetuses. 2000. Noninvasive diagnosis by Doppler ultrasonography of fetal anemia due to maternal red-cell alloimmunization. N Engl J Med 342: 9-14.
10. Meirowitz NB, Guzman ER, Underberg-Davis SJ, et al. 2000. Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion. AM J Clin Ultrasound 28: 258-263.
11. Pannier E, Viot G, Aubry MC, et al. 2003. Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn 23: 25-30.
12. Verstraeten L, Van Regemorter N, Pardou A, et al. 1993. Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis. Eur J Clin Chem Clin Biochem 31: 121-128.