Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

Risheg, Hiba; Chen, Fu-Ping; Bloomer, Joseph R.

doi:10.1016/j.ymgme.2003.07.001

Cited by 33 publications

(38 citation statements)

References 28 publications

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“…Ferrochelatase DNA analysis in ten patients showed that each was heterozygous for a mutation in the ferrochelatase gene that caused splicing abnormality in six, frame shift or nonsense in three, and missense in one; nine patients also had a polymorphism in the other ferrochelatase allele (IVS3-48c) that caused low expression of the gene. [1][2][3] The diagnosis of EPP liver disease was confirmed by examination of the explants, which were enlarged and black in color, and with most having micronodular cirrhosis ( Fig. 1).…”

Section: Resultsmentioning

confidence: 92%

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Liver transplantation for erythropoietic protoporphyria liver disease

et al. 2005

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In erythropoietic protoporphyria (EPP), there is excessive production of protoporphyrin, primarily in the bone marrow, resulting in increased biliary excretion of this heme precursor. Some patients will develop progressive liver disease that may ultimately require liver transplantation. However, excessive production of protoporphyrin by the bone marrow continues after transplantation, which may cause recurrent disease in the allograft. This study was performed to define post-transplant survival, the risk of recurrent disease, and specific management issues in patients transplanted for EPP liver disease. The patients studied consisted of twelve males and eight females, with an average age of 31 (range, 13-56) years at the time of transplantation. The estimated maximum MELD score prior to transplant was 21 (range, 15-29). Unique complications in the perioperative period were light induced tissue damage in four patients and neuropathy in six, requiring prolonged mechanical ventilation in four. Patient and graft survival rates were 85% at 1 year, 69% at 5 years, and 47% at 10 years. Recurrent EPP liver disease occurred in 11 of 17 patients (65%) who survived more than 2 months. Three patients were retransplanted at 1.8, 12.6, and 14.5 years after the initial transplant for recurrent EPP liver disease. In conclusion, the 5-year patient survival rate in patients transplanted for EPP liver disease is good, but the recurrence of EPP liver disease appears to diminish long term graft and patient survival. (Liver Transpl 2005;11:1590-1596.)

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Section: Resultsmentioning

confidence: 92%

“…[1][2][3] Patients with EPP have excessive production of protoporphyrin, primarily in the bone marrow, resulting in increased biliary excretion of this compound. 4 The major clinical manifestation in EPP is photosensitivity, which is caused by the photo-active damage to skin by protoporphyrin.…”

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confidence: 99%

Liver transplantation for erythropoietic protoporphyria liver disease

et al. 2005

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“…Thus, the presence of a T in the position IVS3-48 was shown to produce about 20% aberrantly spliced mRNA, whereas the presence of a C in this position leads to a higher presence, about 40%, of the abnormal mRNA, which would be easily degraded by the so-called nonsensemediated mRNA decay, producing a lower steady-state level of FECH mRNA (11,12). Although the inheritance of an IVS3-48C allele trans to the mutation explained the phenotypic expression in most families (4,(12)(13)(14), autosomal recessive inheritance can cause overt EPP in patients who do not have the low- expression allele. A small number of cases of recessive inheritance have been reported (15,16).…”

Section: Introductionmentioning

confidence: 98%

“…EPP is due to decreased activity of ferrochelatase (FECH) (E.C. 4.99.1.1), the enzyme that catalyses the chelation of iron into protoporphyrin IX (PP IX) to form heme. The deficient activity leads to the accumulation of PP IX in red blood cells, plasma, liver, and bile, and an increased PP IX excretion in the feces (Figure 1).…”

Section: Introductionmentioning

confidence: 99%

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Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Parera

Koole

Minderman

et al. 2009

Mol Med

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Clinical, Biochemical, and Genetic Study of 11 Patients With Erythropoietic Protoporphyria Including One With Homozygous Disease

Herrero

To‐Figueras²,

Badenas³

et al. 2007

Arch Dermatol

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To study the mutations in the ferrochelatase gene (FECH) and the phenotypic expression of erythropoietic protoporphyria (EPP) in a group of Spanish patients. Design: Case series. Setting: University-based hospital. Patients: Eleven unrelated patients with EPP and 19 asymptomatic relatives from 10 families. Main Outcomes Measures: Measurement of protoporphyrin concentration in red blood cells and feces by fluorometry and chromatography. Analysis of the mutations of the FECH gene by single-strand conformation analysis. Expression of mutations in Escherichia coli.Results: FECH gene mutations were found in all 11 patients. Ten were heterozygous and carried the IVS3-48C low-expression allele. Three novel mutations were found: IVS4ϩ 1delG, 347-351delC, and 130_147dupl 18. One

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Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

Cited by 33 publications

References 28 publications

Liver transplantation for erythropoietic protoporphyria liver disease

Liver transplantation for erythropoietic protoporphyria liver disease

Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Clinical, Biochemical, and Genetic Study of 11 Patients With Erythropoietic Protoporphyria Including One With Homozygous Disease

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