Abstract
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed. This report describes a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene, although other mutations including the p.Lys404Glu mutation in CPOX were not found. By unknown etiology, our patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Based on genetic mutation of the CPOX gene and information from a previous similar case report, we consider that neonatal-onset HCP is a variant of HCP.
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Acknowledgements
The authors thank the patients and their families for their voluntary cooperation. We thank Dr. K. Honma and Prof. T. Hasegawa (Keio University, Tokyo, Japan) for urinary steroid profile analyses and many helpful suggestions.
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Communicated by: John Christodoulou, MBBS PhD FRACP FRCPA
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Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, and Hirokazu Tsukahara declare that they have no conflict of interest.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. This study was approved by the Ethical Committee of Okayama University Hospital. Informed consent was obtained from patient’s mother. Additional informed consent was also obtained from patient’s mother for which identifying information is included in this article. Proof that informed consent was obtained is available upon request.
Details of the Contributions of Individual Authors
Study design: Kosei Hasegawa and Hiroyuki Tanaka.
Clinical data collection: Kosei Hasegawa, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, and Norihiro Suzuki.
Drafting the manuscript: Kosei Hasegawa.
Revising manuscript content: Hiroyuki Tanaka, Keiji Iwatsuki, and Hirokazu Tsukahara.
Take-Home Message
Neonatal-onset hereditary coproporphyria is a variant of HCP.
Funding
This work was partly supported by a Grant-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology (15K09623). The authors confirm independence from the sponsors, and the content of the article has not been influenced by the sponsors.
Guarantor for the Article, Accepts Full Responsibility for the Work and/or the Conduct of the Study, Had Access to the Data, and Controlled the Decision to Publish
Kosei Hasegawa
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Hasegawa, K. et al. (2017). Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 37. JIMD Reports, vol 37. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_20
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DOI: https://doi.org/10.1007/8904_2017_20
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