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[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)].
Dtsch Med Wochenschr. 1981 Feb 20; 106(8):241-5.DM

Abstract

A 54-year-old patient was found to have clinically manifest chronic hepatic porphyria (porphyria cutanea tarda) with characteristic skin findings and pathological porphyrinuria with dominance of uro- and heptacarboxyporphyrin in combination with only slight liver damage. Four generations of his family were investigated and an autosomal dominantly inherited uroporphyrinogen decarboxylase defect was found. In children and grandchildren the urinary porphyrin biochemistry also showed a chronic porphyrin metabolic disorder, in some cases with transition to the initial stages of chronic hepatic porphyria. The patient was treated with metabolic alkalisation using Uralyt-U. Skin changes became normal within 6 months. The chronic hepatic porphyria regressed through varyingly severe latent stages over two years until normal porphyrin in urine was reached.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

7472211

Citation

Lehr, P A., and M Doss. "[Chronic Hepatic Porphyria With Uroporphyrinogen Decarboxylase Defect in Four Generations (author's Transl)]." Deutsche Medizinische Wochenschrift (1946), vol. 106, no. 8, 1981, pp. 241-5.
Lehr PA, Doss M. [Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]. Dtsch Med Wochenschr. 1981;106(8):241-5.
Lehr, P. A., & Doss, M. (1981). [Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]. Deutsche Medizinische Wochenschrift (1946), 106(8), 241-5.
Lehr PA, Doss M. [Chronic Hepatic Porphyria With Uroporphyrinogen Decarboxylase Defect in Four Generations (author's Transl)]. Dtsch Med Wochenschr. 1981 Feb 20;106(8):241-5. PubMed PMID: 7472211.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)]. AU - Lehr,P A, AU - Doss,M, PY - 1981/2/20/pubmed PY - 1981/2/20/medline PY - 1981/2/20/entrez SP - 241 EP - 5 JF - Deutsche medizinische Wochenschrift (1946) JO - Dtsch. Med. Wochenschr. VL - 106 IS - 8 N2 - A 54-year-old patient was found to have clinically manifest chronic hepatic porphyria (porphyria cutanea tarda) with characteristic skin findings and pathological porphyrinuria with dominance of uro- and heptacarboxyporphyrin in combination with only slight liver damage. Four generations of his family were investigated and an autosomal dominantly inherited uroporphyrinogen decarboxylase defect was found. In children and grandchildren the urinary porphyrin biochemistry also showed a chronic porphyrin metabolic disorder, in some cases with transition to the initial stages of chronic hepatic porphyria. The patient was treated with metabolic alkalisation using Uralyt-U. Skin changes became normal within 6 months. The chronic hepatic porphyria regressed through varyingly severe latent stages over two years until normal porphyrin in urine was reached. SN - 0012-0472 UR - https://www.unboundmedicine.com/medline/citation/7472211/[Chronic_hepatic_porphyria_with_uroporphyrinogen_decarboxylase_defect_in_four_generations__author's_transl_]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1070295 DB - PRIME DP - Unbound Medicine ER -