Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

Pannier, E.; Viot, Géraldine; Aubry, M. C.; Grangé, G.; Tantau, Julia; Fallet-Bianco, Catherine; Müller, Françoise; Cabrol, D.

doi:10.1002/pd.491

Cited by 25 publications

(18 citation statements)

References 28 publications

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“…Erythrocyte UROIIIS activity can be measured directly using certain sensitive assays of cultured red blood cells; however, these assays are less accurate in transfused patients . In an affected pregnancy, amniotic fluid is dark brown in color, and the diagnosis is confirmed by increased type I uroporphyrin and coproporphyrin isomers in the amniotic fluid . Six cases of prenatal CEP have been reported; prenatal ultrasounds showed hydrops fetalis and nuchal translucency (due to anemia), as well as hyperechoic kidneys and bones (suggestive or uroporphyrin I deposition) …”

Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II. IntroductionThe porphyrias are a group of disorders characterized by defects in heme production, resulting in buildup of toxic heme precursors (Table 1). Cutaneous findings are common and include photosensitivity, painful burning, bullae, and scarring. Diagnosis requires laboratory measurement of heme precursors in plasma, urine, stool, and erythrocytes.Heme is made from glycine and succinyl-coenzyme A in eight steps (Fig. 1). Heme synthesis is ubiquitous throughout the body, but 85% occurs in bone marrow, becoming hemoglobin.1 Porphyrias are classified into two categories based on whether heme precursors build up in the liver (hepatic porphyrias) or bone marrow (erythropoietic porphyrias). Hepatic porphyrias are subdivided into acute and chronic subtypes, and tend to have secondary triggers (e.g., drugs, alcohol, hormone fluctuation, infection, and fasting). Acute hepatic porphyrias present with episodes (acute attacks) of abdominal or neurological symptoms caused by a genetic predisposition with a secondary metabolic trigger. Porphyria cutanea tarda (PCT), the only chronic hepatic porphyria, has a prolonged course of liver damage and photosensitivity. Erythropoietic porphyrias present in childhood with photosensitivity. While the main defect lies in the erythrocytes, the liver may also be involved. Materials and methodsA comprehensive literature search was initially performed using PubMed. Broad searches were performed using the terms "porphyria," "coproporphyria," and "protoporphyria" in the title, and "skin diseases, genetic" in the medical subject heading, but excluding for medical subject heading "acute intermittent." Articles

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Section: Erythropoietic Porphyriasmentioning

confidence: 99%

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

et al. 2013

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“…Finally, parental consanguinity was present in all 3 families. In another publication, CH was detected at 14 and 19 weeks of gestation in 2 fetuses with congenital erythropoietic porphyria (Gunther's disease) [14] . A third case report of recurrent fetal CHs in subsequent pregnancies with normal fetal karyotype (46,XX) has been reported by Teague et al [15] .…”

Section: Discussionmentioning

confidence: 99%

Recurrent Cystic Hygroma with Hydrops

et al. 2009

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Objective: A patient whose 5 fetuses, including a set of twins, were affected by cystic hygroma (CH) and hydrops is presented. Method: A 39-year-old gravida 12 para 7, 2, 2, 8 was followed through her pregnancies. Both patient and her spouse are of Ashkenazi Jewish descent and are non-consanguineous. The spouse has Gaucher disease and is on replacement therapy. The patient is not a carrier of any known allele of Gaucher disease. In 2 pregnancies, an ultrasonogram done at 12 weeks revealed a septated CH in 3 fetuses. We have excluded Noonan syndrome, Fryns syndrome and Gunther’s disease as the responsible causes for the recurrent CH and aneuploidy in at least 3 of these fetuses. Results: The products of conception in 1 pregnancy showed low normal levels of glucocerebrosidase but no known Gaucher mutation. Conclusion: We present a patient with recurrent CH in 5 fetuses (4 pregnancies) of which 3 fetuses had a normal karyotype. This appears to be an autosomal recessive disorder.

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“…The age at onset and clinical severity are highly variable in CEP patients. Extremely severe forms, starting during pregnancy, are dominated by severe haemolytic anaemia responsible for foetal hydrops and death in utero (Pannier et al , ). In contrast, adult late‐onset forms exhibit a mild phenotype often restricted to a mild cutaneous photosensitivity (Berry et al , ), and associated with myelodysplasia (Kontos et al , ) or thrombocytopenia.…”

Section: Clinical Symptomsmentioning

confidence: 99%

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

2016

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Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of CEP include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of ALAS2, the first and rate-limiting of the haem synthesis enzymes in erythroid cells, has also been reported. CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out.

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Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

Cited by 25 publications

References 28 publications

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology

Recurrent Cystic Hygroma with Hydrops

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

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