A rare cause of fetal ascites: A case report of Gunther's disease

Fetal Diagnosis and Therapy

Volumn 14, Issue 5, 1999, Pages 257-261

  Lienhardt, Anne ^a   Aubard, Y ^a   Laroche, C ^a   Gilbert, B ^a   Bernard, Ph ^a   Masseri, G ^b   Bouleisteix, J ^a  

^a DUPUYTREN UNIVERSITY HOSPITAL   (France)

^b NONE

Author keywords

Congenital erythropoietic porphyria; Fetal ascites

Indexed keywords

ARTICLE; ASCITES; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; DISEASE SEVERITY; FEMALE; FETUS; FETUS DISEASE; FETUS HYDROPS; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADULT; ANEMIA; ASCITES; FEMALE; FETAL DISEASES; HUMANS; MUTATION; PORPHYRIA, ERYTHROPOIETIC; PREGNANCY; RETROSPECTIVE STUDIES; THROMBOCYTOPENIA; ULTRASONOGRAPHY, PRENATAL;

EID: 0032843663     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000020933     Document Type: Article

References (19)

1. Forouzan I: Hydrops fetalis: Recent advances. Obstet Gynecol Surv 1997;52:130-138.
2. Phibbs RH: Hydrops fetalis and other causes of neonatal edema and ascites; in Polin, Fox (eds): Fetal and Neonatal Physiology, ed 2. Philadelphia, Saunders, 1998, pp 1730-1736.
3. Nordmann Y, Deybach JC: Congenital erythropoietic porphyria. Semin Dermatol 1986;5: 106-114.
4. Jensen JD, Resnick SD: Porphyria in childhood. Semin Dermatol 1995;14:33-39.
5. Freesemann AG, Bhutani LK, Jacob K, Doss MO: Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease). Arch Dermatol Res 1997;289:272-276.
6. Verstraeten BL, van Regemorter N, Pardou A, de Verneuil H, da Silva V, Rodesch F, Vermeylen D, Donner C, Noël JC, Nordmann Y, Hassoun A: Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops fetalis. Eur J Clin Chem Clin Biochem 1993;31:121-128.
7. De Verneuil H, Moreau-Gaudy F, Ged C, Bensidhoum M, Hombrados I, Tricoire J, Rolland M: Fatal case of congenital erythropoietic porphyria in a neonate with acute hemolysis and hepatic failure. Arch Pediatr 1995;2:755-761.
8. Huang JL, Zaider E, Roth P, Garcia O, Pollack S, Poh-Fitzpatrick MB: Congenital erythropoietic porphyria: Clinical, biochemical, and enzymatic profile of a severely affected infant. J Am Acad Dermatol 1996;34:924-927.
9. Boulechfar S, Da Silva V, Deybach JC, Nordmann Y, Grandschamp B, de Verneuil H: Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Hum Genet 1992;88:320-324.
10. Xu W, Astrin KH, Desnick RJ: Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene. Hum Mut 1996;7:187-192.
11. Fontanellas A, Bensidhoum M, Salamanca RE, Moruno Tirado A, De Verneuil H, Ged C: A systematic analysis of the mutations of the uroporphyrinogen III synthase in congenital erythropoietic porphyria. Eur J Hum Genet 1996;4: 274-282.
12. Takamura N, Hombrados I, Tanigawa K, Namba H, Nagayama Y, de Verneuil H, Yamashita S: Novel point mutation in the uroporphyrinogen III synthase gene cause congenital erythropoietic porphyria. Am J Med Genet 1997;70:299-302.
13. Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH: Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis 1998;18: 77-84.
14. Ged C, Moreau-Gaudy F, Taine L, Hombrados I, Calvas P, Colombies P, de Verneuil H: Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis. Prenat Diagn 1996; 16:83-86.
15. Freesemann AG, Gross U, Bensidhoum M, de Verneuil H, Doss MO: Immunological, enzymatic and biochemical studies of uroporphyrinogen III synthase deficiency in 20 patients with congenital erythropoietic porphyria. Eur J Biochem 1998;257:149-153.
16. Thomas C, Ged C, Nordmann Y, de Verneuil H, Pellier I, Fischer A, Blanche S: Correction of congenital erythropoietic porphyria by bone marrow transplantation. J Pediatr 1996;129: 453-456.
17. Moreau-Gaudy F, Barbot C, Mazurier F, Mahon FX, Reiffers J, Ged C, de Verneuil H: Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer. Hematol Cell Ther 1996;38:217-220.
18. Mazurier F, Moreau-Gaudy F, Salesse S, Barbot C, Ged C, Reiffers J, de Verneuil H: Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria. J Interhit Metab Dis 1997;20:247-257.
19. Kauppinen R, Glass IA, Aizencang G, Astrin KH, Atweth GF, Desnick RJ: Congenital erythropoietic porphyria: Prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. Mol Genet Metab 1998;65:10-17.