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Chronic hepatic porphyria

MedGen UID:
1842629
•Concept ID:
C5681578
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA95161

Definition

Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic hepatic porphyria

Professional guidelines

PubMed

Treatment of chronic hepatic porphyria (PCT).
Malina L
Photodermatol 1986 Apr;3(2):113-21. PMID: 3703715

Recent clinical studies

Etiology

Urinary porphyrin excretion in hepatitis C infection.
Vogeser M, Jacob K, Zachoval R
Clin Chem Lab Med 1999 Aug;37(8):799-804. doi: 10.1515/CCLM.1999.120. PMID: 10536928
Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene.
Seldén AI, Floderus Y, Bodin LS, Westberg HB, Thunell S
Arch Environ Health 1999 Jul-Aug;54(4):248-53. doi: 10.1080/00039899909602482. PMID: 10433183

Diagnosis

Multinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis.
Naganuma H, Ishida H, Yoshida M, Funaoka M, Ito S, Ohyama Y
J Clin Ultrasound 2019 Mar;47(3):165-168. Epub 2018 Oct 30 doi: 10.1002/jcu.22660. PMID: 30378127
Alcohol and porphyrin metabolism.
Doss MO, Kühnel A, Gross U
Alcohol Alcohol 2000 Mar-Apr;35(2):109-25. doi: 10.1093/alcalc/35.2.109. PMID: 10787385
Porphyrinurias and occupational disease.
Doss MO
Ann N Y Acad Sci 1987;514:204-18. doi: 10.1111/j.1749-6632.1987.tb48775.x. PMID: 3327428
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Sixel-Dietrich F, Doss M
Arch Dermatol Res 1985;278(1):13-6. doi: 10.1007/BF00412489. PMID: 4096525
Vinyl chloride-induced hepatic coproporphyrinuria with transition to chronic hepatic porphyria.
Doss M, Lange CE, Veltman G
Klin Wochenschr 1984 Feb 15;62(4):175-8. doi: 10.1007/BF01731640. PMID: 6708400

Therapy

Alcohol and porphyrin metabolism.
Doss MO, Kühnel A, Gross U
Alcohol Alcohol 2000 Mar-Apr;35(2):109-25. doi: 10.1093/alcalc/35.2.109. PMID: 10787385
Porphyrin status in aluminum foundry workers exposed to hexachlorobenzene and octachlorostyrene.
Seldén AI, Floderus Y, Bodin LS, Westberg HB, Thunell S
Arch Environ Health 1999 Jul-Aug;54(4):248-53. doi: 10.1080/00039899909602482. PMID: 10433183
Treatment of chronic hepatic porphyria (PCT).
Malina L
Photodermatol 1986 Apr;3(2):113-21. PMID: 3703715
Hereditary uroporphyrinogen-decarboxylase deficiency predisposing porphyria cutanea tarda (chronic hepatic porphyria) in females after oral contraceptive medication.
Sixel-Dietrich F, Doss M
Arch Dermatol Res 1985;278(1):13-6. doi: 10.1007/BF00412489. PMID: 4096525
Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin.
Doss M, Sauer H, von Tiepermann R, Colombi AM
Int J Biochem 1984;16(4):369-73. doi: 10.1016/0020-711x(84)90134-4. PMID: 6714509

Prognosis

Treatment of chronic hepatic porphyria (PCT).
Malina L
Photodermatol 1986 Apr;3(2):113-21. PMID: 3703715

Clinical prediction guides

Alcohol and porphyrin metabolism.
Doss MO, Kühnel A, Gross U
Alcohol Alcohol 2000 Mar-Apr;35(2):109-25. doi: 10.1093/alcalc/35.2.109. PMID: 10787385
Porphyrin studies in TCDD-exposed workers.
Jung D, Konietzko J, Reill-Konietzko G, Muttray A, Zimmermann-Hölz HJ, Doss M, Beck H, Edler L, Kopp-Schneider A
Arch Toxicol 1994;68(9):595-8. doi: 10.1007/s002040050120. PMID: 7998828
Multiple nodular foci in the liver associated with chronic hepatic porphyria after previous treatment of breast cancer.
Lelbach WK, Müller TR, Kersjes W, Hartlapp JH, Doss M
Klin Wochenschr 1989 Jun 1;67(11):592-7. doi: 10.1007/BF01721687. PMID: 2664332
Porphyrinurias and occupational disease.
Doss MO
Ann N Y Acad Sci 1987;514:204-18. doi: 10.1111/j.1749-6632.1987.tb48775.x. PMID: 3327428
Alcohol-induced decrease in uroporphyrinogen decarboxylase activity in rat liver and spleen.
Doss M, von Tiepermann R, Stutz G, Teschke R
Enzyme 1981;26(1):24-31. doi: 10.1159/000459143. PMID: 7194180

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