Porphyria cutanea tarda
ORPHA:101330DiseaseAutosomal dominant, Multigenic/multifactorialAdult
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0032500Exacerbated by tobacco use
HP:0000992Cutaneous photosensitivity
HP:0008066Abnormal blistering of the skin
HP:0001030Fragile skin
HP:0010473Porphyrinuria
HP:0010472Abnormal circulating porphyrin concentration
Частый (30–79%)10
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030272Abnormal erythrocyte enzyme activity
HP:0003281Increased circulating ferritin concentration
HP:0012465Elevated hepatic iron concentration
HP:0030955Alcoholism
HP:0200123Chronic hepatitis
HP:0001058Poor wound healing
HP:0012531Pain
HP:0012217Increased urinary porphobilinogen
HP:0003452Increased serum iron
Периодический (5–29%)23
HP:0031876Decreased hepcidin level
HP:0002725Systemic lupus erythematosus
HP:0003774Stage 5 chronic kidney disease
HP:0000819Diabetes mellitus
HP:0001397Hepatic steatosis
HP:0004377Hematological neoplasm
HP:0040189Scaling skin
HP:0005406Recurrent bacterial skin infections
HP:0031292Cutaneous abscess
HP:0000998Hypertrichosis
HP:0001010Hypopigmentation of the skin
HP:0000953Hyperpigmentation of the skin
HP:0001007Hirsutism
HP:0100699Scarring
HP:0000559Corneal scarring
HP:0000656Ectropion
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0001405Periportal fibrosis
HP:0033197Hepatic lobular inflammation
HP:0033196Portal inflammation
HP:0001402Hepatocellular carcinoma
HP:0032999Increased fecal porphyrin
HP:0006562Viral hepatitis
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.6 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 4 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 1 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)