ACUTE INTERMITTENT PORPHYRIA IN 2 MOROCCA N FAMILIES - CLINICAL AND BIOLOGICAL STUDIES

Citation
R. Aquaron et al., ACUTE INTERMITTENT PORPHYRIA IN 2 MOROCCA N FAMILIES - CLINICAL AND BIOLOGICAL STUDIES, La Revue de medecine interne, 17(6), 1996, pp. 477-481
Citations number
21
Categorie Soggetti
Medicine, General & Internal
ISSN journal
02488663
Volume
17
Issue
6
Year of publication
1996
Pages
477 - 481
Database
ISI
SICI code
0248-8663(1996)17:6<477:AIPI2M>2.0.ZU;2-#
Abstract
Three patients from Moroccan kindreds with acute intermittent porphyri a (AIP) are described The propositus of family A originating from Mrir t, Morocco, is living in Embrun, France. This 26 year-old woman who ex perienced an acute attack with visceral manifestations presented an el evated urinary level of 5-ALA and PBG, and a half-normal activity in p orphobilinogen deaminase (PBG-D) in red blood cells (RBC). The family' s survey was carried out by measuring the PBG-D activity in RBC (norma l values = 125 +/- 40 U). Three of the 16 subjects tested, beside the propositus, were found to be asymptomatic carriers (PBG-D < 70 U). The two patients of family B, originating from Tetouan ill the Rif area, were living in Bastia, Corsica. The two brothers, respectively 37 and 39 years old, had a long history (6 years) of neuropsychiatric manifes tations before the AIP diagnosis was evidenced by elevated urinary lev el of 5-ALA and PBG, and showed a partial deficiency, approximately, 5 0%, of PBG-D activity in RBC. The youngest patient also presented a pe ripheral neuropathy and recently died after surgery from an unknown re ason at the age of 45.