INCIDENCE OF HEREDITARY PORPHYRIA-CUTANEA-TARDA (PCT) IN A SAMPLE OF THE ITALIAN POPULATION

被引:6
作者
DALESSANDRO, L
GRISO, D
BIOLCATI, G
MACRI, A
TOPI, GC
机构
[1] Centro Studi per le Porfirie, Istituto S. Gallicano, Rome, I-00153
关键词
HEREDITARY PORPHYRIA CUTANEA TARDA (PCT); URODECARBOXYLASE ACTIVITY;
D O I
10.1007/BF00375795
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
The determination of the enzymatic activity of URO-D in erythrocytes is the screening method used for differentiation between hereditary and non-hereditary forms of porphyria cutanea tarda (PCT). The aim of the present work was to establish the relative frequencies of the symptomatic and hereditary forms by the determination of the URO-D enzyme in the PCT patients who were regularly treated at the Centre for Porphyrins in our Institute. In the course of this work we also examined the statistical properties of the distributions of both normal and porphyric subjects, so as to be able to suggest values for discriminating between normal subjects and the various types of porphyric subjects.
引用
收藏
页码:212 / 214
页数:3
相关论文
共 12 条
[1]  
[Anonymous], 1956, NONPARAMETRIC STAT B
[2]  
de Verneuil H, 1978, Hum Genet, V44, P145
[3]   HEREDITARY AND NON-HEREDITARY FORM OF CHRONIC HEPATIC PORPHYRIA - DIFFERENT BEHAVIOR OF UROPORPHYRINOGEN DECARBOXYLASE IN LIVER AND ERYTHROCYTES [J].
DOSS, M ;
VONTIEPERMANN, R ;
LOOK, D ;
HENNING, H ;
NIKOLOWSKI, J ;
RYCKMANNS, F ;
BRAUNFALCO, O .
KLINISCHE WOCHENSCHRIFT, 1980, 58 (24) :1347-1356
[4]  
DOSS MO, 1991, CURR PROBL DERMATOL, V20, P97
[5]   IDENTIFICATION OF 2 TYPES OF PORPHYRIA CUTANEA-TARDA BY MEASUREMENT OF ERYTHROCYTE UROPORPHYRINOGEN DECARBOXYLASE [J].
ELDER, GH ;
SHEPPARD, DM ;
SALAMANCA, RED ;
OLMOS, A .
CLINICAL SCIENCE, 1980, 58 (06) :477-484
[6]   ERYTHROCYTE UROPORPHYRINOGEN DECARBOXYLASE ACTIVITY IN PORPHYRIA CUTANEA-TARDA - A STUDY OF 40 CONSECUTIVE PATIENTS [J].
HELD, JL ;
SASSA, S ;
KAPPAS, A ;
HARBER, LC .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1989, 93 (03) :332-334
[7]   ERYTHROCYTE METABOLISM .6. SEPARATION OF ERYTHROCYTE ENZYMES FROM HEMOGLOBIN [J].
HENNESSEY, MA ;
GABRIO, BW ;
WALTERSDORPH, AM ;
HUENNEKENS, FM .
JOURNAL OF CLINICAL INVESTIGATION, 1962, 41 (06) :1257-+
[8]  
KOSZO F, 1990, BORGYOGYASZATI VENER, V66, P113
[9]   INHERITED ENZYMATIC DEFECT IN PORPHYRIA CUTANEA-TARDA - DECREASED UROPORPHYRINOGEN DECARBOXYLASE ACTIVITY [J].
KUSHNER, JP ;
BARBUTO, AJ ;
LEE, GR .
JOURNAL OF CLINICAL INVESTIGATION, 1976, 58 (05) :1089-1097
[10]   CHRONIC HEPATIC PORPHYRIA WITH UROPORPHYRINOGEN DECARBOXYLASE DEFECT IN 4 GENERATIONS [J].
LEHR, PA ;
DOSS, M .
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1981, 106 (08) :241-245