Literature DB >> 970225

Hereditary hepatic porphyrias in Finland.

P Mustajoki, P Koskelo.   

Abstract

The occurrence of hepatic porphyrias--acute intermittent porphyria (AIP) and variegate porphyria (VP)--in Finland has been studied. During a period of 9 years 107 patients with AIP and 45 patients with VP were found. The prevalence of hereditary hepatic porphyrias was calculated to be 3.4 per 100 000 inhabitants. The patients belonged to 42 different families. Eighty-nine patients (59%) had had acute attacks, whereas 63 were symptomless latent cases. Precipitating factors, symptoms and excretion of porphyrins and their precursors did not significantly differ from what has been reported earlier from other parts of the world. A slight fragility of the skin on the back of the hands was noted in some 50% of VP patients. Abnormal sensitivity to sunlight could not be seen in a single case. However, about 50% of patients with VP showed an abnormal reaction when irradiated with artificial ultraviolet light. The difference in the skin symptoms in South African and Finnish VP patients is discussed.

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Year:  1976        PMID: 970225     DOI: 10.1111/j.0954-6820.1976.tb08216.x

Source DB:  PubMed          Journal:  Acta Med Scand        ISSN: 0001-6101


  18 in total

1.  Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

Authors:  Irene Paradisi; Sergio Arias
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

Review 2.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

3.  Chester porphyria: a clinical study of a new form of acute porphyria.

Authors:  M R Qadiri; S E Church; K E McColl; M R Moore; G R Youngs
Journal:  Br Med J (Clin Res Ed)       Date:  1986-02-15

4.  Haem arginate in the treatment of acute hepatic porphyrias.

Authors:  P Mustajoki; R Tenhunen; O Tokola; G Gothoni
Journal:  Br Med J (Clin Res Ed)       Date:  1986-08-30

5.  The incidence of inherited porphyrias in Europe.

Authors:  George Elder; Pauline Harper; Michael Badminton; Sverre Sandberg; Jean-Charles Deybach
Journal:  J Inherit Metab Dis       Date:  2012-11-01       Impact factor: 4.982

6.  Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

Authors:  P Mustajoki; R J Desnick
Journal:  Br Med J (Clin Res Ed)       Date:  1985-08-24

7.  Hereditary coproporphyria: incidence in a large English family.

Authors:  J Andrews; H Erdjument; D C Nicholson
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

8.  Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Authors:  Brenden Chen; Constanza Solis-Villa; Jörg Hakenberg; Wanqiong Qiao; Ramakrishnan R Srinivasan; Makiko Yasuda; Manisha Balwani; Dana Doheny; Inga Peter; Rong Chen; Robert J Desnick
Journal:  Hum Mutat       Date:  2016-09-05       Impact factor: 4.878

9.  Celiac disease or dermatitis herpetiformis in three patients with porphyria.

Authors:  P Mustajoki; M Vuoristo; T Reunala
Journal:  Dig Dis Sci       Date:  1981-07       Impact factor: 3.199

Review 10.  Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular level.

Authors:  G Romeo
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

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