Die chronische hepatische Porphyrie (Porphyria cutanea tarda)

Köstler, E; Doss, M.

doi:10.1007/978-3-642-78100-1_3

Cited by 4 publications

(7 citation statements)

References 244 publications

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“…While in porphyria cutanea tarda the mobilization and successive renal elimination of accumulated liver porphyrins by low-dose chloroquine treatment has become a successful therapy (7,22), in the case of dual variegate -cutanea tarda it should be considered that chloroquine sometimes induces acute porphyria manifestations (23). Therefore, chloroquine should either be omitted in these cases or, if the variegate is in a latent and stable phase (constantly normal urinary 5-aminolaevulinic acid and porphobilinogen levels), be applied under continuous clinical and pathobiochemical monitoring of urinary 5-aminolaevulinic acid, porphobilinogen and porphyrin excretion.…”

Section: Discussionmentioning

confidence: 99%

Dual Porphyria of Coexisting Variegata and Cutanea Tarda

Sieg¹,

Bhutani²,

Doss³

1995

CCLM

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Summary:While porphyria cutanea tarda and porphyria variegata are independent diseases, we report on seven rare cases with a coincidence of these two different porphyrias in one Individuum.The mutual clinical symptom was a cutaneous photosensitivity, which is a major symptom in porphyria cutanea tarda and a facultative one in porphyria variegata. Additionally, five patients had also experienced episodes of acute abdominal pain, which were in three cases accompanied by neurological symptoms, thus offering evidence for an acute hepatic porphyria, such as porphyria variegata.Determination of urinary porphyrin metabolites revealed a porphyria cutanea tarda-like excretion pattern with an elevation of uroporphyrin (mean 1134 nmol/24h, range 563-4052, normal < 30) and heptacarboxyporphyrin (mean 389 nmol/24h, range 64-830, normal ^4). In all patients, however, urinary coproporphyrin was also increased, reaching levels too high for porphyria cutanea tarda but typical for porphyria variegata (mean 1788 nmol/ 24 h, range 142-4168, normal ^ 120). Fecal porphyrin excretion also resembled the variegate-type with a high concentration especially of protoporphyrin (mean 628 nmol/g dry weight, range 401 -1018, normal ^ 151), accompanied by an increase of coproporphyrin (mean 194 nmol/g dry weight, range 75-409, normal < 37). The urinary porphyrin precursors 5-aminolaevulinic acid and porphobilinogen were markedly elevated only in one patient, who was in an acute porphyric phase at the time of investigation. The activity of uroporphyrinogen decarboxylase in erythrocytes was considerably decreased in six of our cases (33-64%) and slightly diminished in the other one (83% of normal activity).Those metabolic excretion profiles, supplemented by the cutanea tarda-associated uroporphyrinogen decarboxylase deficiency, reflect ari intermediate pattern with characteristics of both porphyria cutanea tarda and variegata, as was confirmed by comparison with 15 cases of porphyria variegata and 10 cases of porphyria cutanea tarda.

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Section: Discussionmentioning

confidence: 99%

Dual Porphyria of Coexisting Variegata and Cutanea Tarda

Sieg¹,

Bhutani²,

Doss³

1995

CCLM

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“…Beide Behandlungsmaßnahmen können kombiniert wer− den [41]. In hepatohistologischen Verlaufsstudien konnte eine Besserung des Leberschadenbildes bei 70 % der mit Chloroquin therapierten Patienten aufgezeigt werden [26,42].…”

Section: Erythropoetische Protoporphyrie (Epp)unclassified

“…Im Gegensatz zur PCT ist das Erythrozytenprotoporphyrin (zinkchelatiert) ebenfalls, wenn auch nur mäßig, erhöht [47]. Lebermitbeteiligung unter− schiedlichen Ausmaßes wird beschrieben [26]. Eine effektive Therapie ist nicht bekannt, Photoprotektion wird empfohlen.…”

Section: Hepatoerythropoetische Porphyrie (Hep)unclassified

Die kutanen Porphyrien

Köstler¹,

Wollina²

2005

Akt Dermatol

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EinleitungDen Porphyrinkrankheiten liegt eine enzymatische Störung der Synthese der Porphyrinogene und des Häms zu Grunde. Nach dem primären Expressionsort des Enzymdefektes können die Porphyrien in erythropoetische und hepatische Formen unter− teilt werden [1], aus klinischer Sicht wird zunehmend in akute und nicht akute Porphyrien klassifiziert [2 ± 4] (Tab. 1).Die nicht akuten Porphyrien sind durch Hautsymptome charak− terisiert, bei der PV und HK können zusätzlich zu abdominellen, neurologischen und psychischen Symptomen Hautveränderun− gen auftreten, die AIP und die Doss−Porphyrie weisen aus− schließlich Allgemeinsymptome auf. AbstractPorphyrias are metabolic disorders caused by defects of enzymes of the hem− or porphyrin synthesis. Six out of the eight known diseases also have cutaneous manifestations which may be of di− agnostic relevance. Very rare disorders are congenital erythro− poietic porphyria and hepatoerythropoietic porphyria which re− semble each other. Both are associated with severe skin lesions in the sun−exposed areas. Erythropoietic protoporphyria (inci− dence 1 : 100,000) has always to be considered in differential di− agnosis of light−induced skin diseases. There are new insights in trigger factors and associated disorders of porphyria cutanea tar− da (PCT) (~1 ½ of the adult population affected) like hepatitis C virus infection or HFE−gene mutations that may have an impact on treatment regimens like phlebotomy and/or chloroquine. He− reditary coproporphyria and porphyria variegata are rare in Ger− many. They may cause PCT−like skin lesions, neuropsychiatric and gastrointestinal symptoms. The diagnosis of porphyria is pri− marily based on pattern recognition of metabolites in urine, faeces and blood. Übersicht 138Dieses Dokument wurde zum persönlichen Gebrauch heruntergeladen. Vervielfältigung nur mit Zustimmung des Verlages.

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“…Alkohol induziert die ALA-Synthase, das erste Enzym in der Porphyrinbiosynthese, und hemmt zugleich die Uro-D [43]. Etwa 50 % (30-90 %) der PCT-Patienten berichten über starken Alkoholabusus.…”

Section: Pathogenese Der Pctunclassified