title: Clinical, biochemical and genetic characteristics of Variegate Porphyria in Italy.
abstract: Variegate Porphyria (VP) is an autosomal dominant disorder found worldwide but is rare in Italy. In this study we provide an overview of clinical, biochemical and genetic background of 33 Italian VP patients diagnosed in the last fifteen years. About 70% of patients had experienced clinical symptoms: 43.4% had photosensivity, 8.7% acute attacks and 47.8% both. Among the 33 patients, 14 different mutations were identified. Of these only 6 defects have been previously described in other countries and 8 are unique having been identified for the first time in Italy. Two of these, the c.851G>T and the c.1013C>G, were found in two and four unrelated families respectively. No mutation has been found in homozygosis and no significant correlation has been observed between specific clinical and biochemical manifestations and the type of mutation. In contrast, normal faecal protoporphyrin excretion was high predictive of silent phenotype. Normal urinary excretion of PBG and ALA, predicted absence of neurovisceral symptoms. This paper represents the first compilation of data on genotype-phenotype relation in Italian patients with VP.
authors: Dipartimento di Medicina Interna, Università degli Studi di Milano - Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena IRCCS Milano, Italy. elena.dipierro@unimi.it
authors: E
authors: E
authors: Di Pierro
authors: P
authors: P
authors: Ventura
authors: V
authors: V
authors: Brancaleoni
authors: V
authors: V
authors: Moriondo
authors: S
authors: S
authors: Marchini
authors: D
authors: D
authors: Tavazzi
authors: F
authors: F
authors: Nascimbeni
authors: M C
authors: MC
authors: Ferrari
authors: E
authors: E
authors: Rocchi
authors: M D
authors: MD
authors: Cappellini
mesh_terms: D000328:Adult; D000368:Aged; D000622:Aminolevulinic Acid / Q000652:urine; D005260:Female; D005420:Flavoproteins / Q000235:genetics* / Q000378:metabolism; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D011162:Porphobilinogen / Q000652:urine; D046350:Porphyria, Variegate / Q000175:diagnosis / Q000235:genetics*; D011166:Porphyrins / Q000652:urine; D050768:Protoporphyrinogen Oxidase / Q000235:genetics* / Q000378:metabolism; D044465:White People / Q000235:genetics*
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase