title: Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
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.
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan. haseyan@md.okayama-u.ac.jp.
authors.forename: Kosei
authors.initials: K
authors.lastname: Hasegawa
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.|Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Yamashita
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Yousuke
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Miyai
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Yoshimoto
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Okada
authors.affiliation: Department of Dermatology, Okayama University Hospital, Okayama, Japan.
authors.forename: Norihiro
authors.initials: N
authors.lastname: Suzuki
authors.affiliation: Department of Dermatology, Okayama University Hospital, Okayama, Japan.
authors.forename: Keiji
authors.initials: K
authors.lastname: Iwatsuki
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
keywords: Coproporphyrinogen oxidase; Hereditary coproporphyria; Jaundice; Neonate; Photosensitivity