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Porphyria

From Wikipedia
porphyria
designated intractable/rare disease, class of disease
Subclass ofinherited metabolic disorder, metabolic skin disease, photodermatosis, disease Edit
Health specialtyendocrinology Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/5545 Edit
ICD-9-CM277.1 Edit

Porphyria (/pɔːrˈfɪriə/ anaa /pɔːrˈfaɪriə/) be a group of disorders insyd wich substances dem call porphyrins dey build up insyd de body, adversely dey affect de skin anaa nervous system.[1] De types wey dey affect de nervous system sanso be known as acute porphyria, as symptoms be rapid insyd onset den short insyd duration.[1] Symptoms of an attack dey include abdominal pain, chest pain, vomiting, confusion, constipation, fever, high blood pressure, den high heart rate.[1][2][3] De attacks usually dey last for days to weeks.[2] Complications fi include paralysis, low blood sodium levels, den seizures.[3] Attacks fi be triggered by alcohol, smoking, hormonal changes, fasting, stress, anaa certain medications.[2][3] If de skin be affected, blisters anaa itching fi occur plus sunlight exposure.[2]

Chaw types of porphyria be inherited from one anaa both of a person ein parents den be secof a mutation insyd one of de genes wey dey make heme.[2] Dem fi be inherited insyd an autosomal dominant, autosomal recessive, anaa X-linked dominant manner.[1] One type, porphyria cutanea tarda, sanso be secof hemochromatosis (increased iron insyd de liver), hepatitis C, alcohol, anaa HIV/AIDS.[1] De underlying mechanism dey result in a decrease insyd de amount of heme dem produce den a build-up of substances wey be involved insyd making heme.[1] Porphyrias sanso fi be classified by whether de liver anaa bone marrow be affected.[1] Diagnosis typically be made by blood, urine, den stool tests.[2] Dem fi do genetic testing to determine de specific mutation.[2] Hepatic porphyrias be those insyd wich de enzyme deficiency dey occur insyd de liver. Hepatic porphyrias dey include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), den porphyria cutanea tarda.[4]

Treatment dey depend on de type of porphyria den de person ein symptoms.[2] Treatment of porphyria of de skin generally dey involve de avoidance of sunlight, while treatment for acute porphyria fi involve giving intravenous heme anaa a glucose solution.[2] Rarely, dem fi carry out a liver transplant.[2]

De precise prevalence of porphyria be unclear, buh e be estimated to affect between 1 den 100 per 50,000 people.[1] Rates be different around de world.[2] Dem dey believe porphyria cutanea tarda to be de most common type.[1] Na dem describe de disease as early as 370 BC by Hippocrates.[5] Na de underlying mechanism be first described by German physiologist den chemist Felix Hoppe-Seyler insyd 1871.[5] De name porphyria be from de Greek πορφύρα, porphyra, wey dey mean "purple", a reference to de color of de urine wey fi be present during an attack.[5]

References

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  1. 1 2 3 4 5 6 7 8 9 "porphyria". MedlinePlus. July 2009. Retrieved 31 March 2021.
  2. 1 2 3 4 5 6 7 8 9 10 11 "Porphyria | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2018-12-06.
  3. 1 2 3 Stein, PE; Badminton, MN; Rees, DC (February 2017). "Update review of the acute porphyrias". British Journal of Haematology. 176 (4): 527–538. doi:10.1111/bjh.14459. PMID 27982422. S2CID 19970176.
  4. ↑ Kothadia, Jiten P.; LaFreniere, Kilian; Shah, Jamil M. (2024), "Acute Hepatic Porphyria", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30725863, retrieved 2024-03-31
  5. 1 2 3 McManus, Linda (2014). Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease Mechanisms. Elsevier. p. 1488. ISBN 978-0-12-386457-4. Archived from the original on 8 September 2017.
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