Porphyrie érythropoïétique congénitale. À propos d'un cas fatal en période néonatale dûà une hémolyse aiguë avec insuffisance hépatique

Verneuil, Hubert de; Moreau‐Gaudry, François; Ged, Cécile; Bensidhoum, Morad; Hombrados, Isabelle; Tricoire, J; Rolland, M

doi:10.1016/0929-693x(96)81246-2

Cited by 15 publications

(5 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Twenty CEP cases belonging to seventeen families (families VII, XIII and XIV; 13 included two different cases, named case 1 and 2) presenting with severe manifestations in the perinatal period were gathered and classified according to the main course of the disease in three situations: antenatal features, acute neonatal distress, and post-natal diagnosis [6,[11][12][13][14][15][16][17][18][19][20][21][22][23]. UROS genotype cf Table 4; Bd, blood; Enz, erythrocyte enzyme assay; Ur, urine; Mo, months; y, years.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Goudet,

Ged,

Petit

et al. 2024

Life

View full text Add to dashboard Cite

(1) Background: Congenital erythropoietic porphyria (CEP), named Günther’s disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution. (2) Methods: Clinical and biological data were retrospectively collected through medical and published records. (3) Results: Twenty CEP cases, who presented with severe manifestations during perinatal period, were classified according to the main course of the disease: antenatal features, acute neonatal distress and postnatal diagnosis. Antenatal symptoms (seven patients) were mainly hydrops fetalis, hepatosplenomegaly, anemia, and malformations. Six of them died prematurely. Five babies showed acute neonatal distress, associated with severe anemia, thrombocytopenia, hepatosplenomegaly, liver dysfunction, and marked photosensitivity leading to diagnosis. The only two neonates who survived underwent hematopoietic stem cell transplantation (HSCT). Common features in post-natal diagnosis (eight patients) included hemolytic anemia, splenomegaly, skin sensitivity, and discoloured teeth and urine. All patients underwent HSCT, with success for six of them, but with fatal complications in two patients. The frequency of the missense variant named C73R is striking in antenatal and neonatal presentations, with 9/12 and 7/8 independent alleles, respectively. (4) Conclusions: The most recent cases in this series are remarkable, as they had a less fatal outcome than expected. Regular transfusions from the intrauterine period and early access to HSCT are the main objectives.

show abstract

Section: Resultsmentioning

confidence: 99%

“…Acute neonatal distress was at the foreground in five near-full-term babies from four distinct families, as depicted in Table 2 [6,[15][16][17]. Non-specific multi-organ decompensation, characterized by respiratory distress, hemodynamic shock, hemorrhage, hemolytic anemia, and liver dysfunction, is common to all cases.…”

Section: Acute Neonatal Presentationmentioning

confidence: 99%

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Goudet,

Ged,

Petit

et al. 2024

Life

View full text Add to dashboard Cite

show abstract

“…Coinheritance of uroporphyrinogen decarboxylase deficiency does not appear to have modified the phenotype of congenital erythropoietic porphyria. Cutaneous symptoms of congenital erythropoietic porphyria are much more severe than those of porphyria cutanea tarda; in addition, porphyria cutanea tarda usually becomes clinically overt in adult life (1,24). Lack of modification of the phenotype by uroporphyrinogen decarboxylase deficiency is not unexpected, since in most of those known to have inherited this deficiency it is clinically and metabolically latent (17).…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Deficiencies of Uroporphyrinogen III Synthase and Decarboxylase in a Patient with Congenital Erythropoietic Porphyria and in His Family

Freesemann

Hofweber²,

Doss³

1997

CCLM

View full text Add to dashboard Cite

A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of uroporphyrinogen decarboxylase was confirmed by family study. The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control. Additionally, the uroporphyrinogen decarboxylase activity was 55-66% of the control in the patient and his family. Family investigations have shown that the two disorders do not consistently segregate together. Although urinary porphyrin excretions of relatives were in the physiological range, the proportion of coproporphyrin isomer I showed a relative increase, which can serve as a biochemical indicator for heterozygous uroporphyrinogen III synthase gene carriers. Brought to you by | University of Queensland -UQ Library Authenticated Download Date | 7/15/15 7:30 AM Brought to you by | University of Queensland -UQ Library Authenticated Download Date | 7/15/15 7:30 AM

show abstract

“…The clinical manifestations of human CEP range in severity from nonimmune hydrops fetalis to transfusion dependency with secondary hypersplenism, to mild, later-onset phenotypes, with the development of only cutaneous lesions in adult life. [25][26][27] Some patients have severe photosensitivity, leading to bullae, scarring, and mutilating involvement of the light-exposed parts of the body such as hands, ears, nose, and eyelids. Mild to severe hemolysis and hypersplenism are suggestive of impaired heme metabolism in erythrocytes.…”

Section: B Animal Models Of Congenital Erythropoietic Porphyriamentioning

confidence: 99%

“…For some patients, the prognosis is poor, with death in early adult life or in the neonatal period. 25,26 The molecular study of the UROS gene in CEP patients highlighted a variety of mutations in both coding and promoter sequences of the gene. 28 A common missense mutation in exon 4, p.Cys73Arg, is found in approximately 30% of disease alleles found in CEP patients from Caucasian origin.…”

Section: B Animal Models Of Congenital Erythropoietic Porphyriamentioning

confidence: 99%

Cellular and Gene Therapy for Erythropoietic Porphyrias

Richard

Ged

Bedel

et al. 2013

Handbook of Porphyrin Science

View full text Add to dashboard Cite

Porphyrie érythropoïétique congénitale. À propos d'un cas fatal en période néonatale dûà une hémolyse aiguë avec insuffisance hépatique

Cited by 15 publications

References 25 publications

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives

Coexistence of Deficiencies of Uroporphyrinogen III Synthase and Decarboxylase in a Patient with Congenital Erythropoietic Porphyria and in His Family

Cellular and Gene Therapy for Erythropoietic Porphyrias

Contact Info

Product

Resources

About