CLINICAL, BIOCHEMICAL AND GENETIC CHARACTERIZATION OF ACUTE HEPATIC PORPHYRIAS IN A COHORT OF ARGENTINE PATIENTS

MARTINEZ, MARÍA DEL CARMEN; CERBINO NORA GABRIELA ; GRANATA, B X; BATLLE ALCIRA; PARERA VE; ROSSCETTI MARIA VICTORIA

Mar del Plata

Congreso; LXIII Reunión Científica de la Sociedad Argentina de Investigación Clínica; 2018

Sociedad Argentina de Investigación Clínica

􀀷􀁋􀁈􀀃􀀤􀁆􀁘􀁗􀁈􀀃􀀫􀁈􀁓􀁄􀁗􀁌􀁆􀀃􀀳􀁒􀁕􀁓􀁋􀁜􀁕􀁌􀁄􀁖􀀃􀀋􀀤􀀫􀀳􀁖􀀌􀀃􀁄􀁕􀁈􀀃􀁆􀁋􀁄􀁕􀁄􀁆􀁗􀁈􀁕􀁌􀁝􀁈􀁇􀀃􀁅􀁜􀀃􀁄􀁑􀀃􀁄􀁆􀁘􀁗􀁈􀀃toms and neurodegenerative changes.Acute Intermittent Porphyria (AIP) is an autosomal dominant disor-􀁇􀁈􀁕􀀃 􀁆􀁄􀁘􀁖􀁈􀁇􀀃 􀁅􀁜􀀃 􀁄􀀃 􀁇􀁈􀃀􀁆􀁌􀁈􀁑􀁗􀀃 􀁄􀁆􀁗􀁌􀁙􀁌􀁗􀁜􀀃 􀁒􀁉􀀃 􀀳􀁒􀁕􀁓􀁋􀁒􀁅􀁌􀁏􀁌􀁑􀁒􀁊􀁈􀁑􀀃 􀁇􀁈􀁄􀁐􀁌􀁑􀁄􀁖􀁈􀀏􀀃producing a markedly increase in the urinary excretion of 5-aminolevulinicacid and porphobilinogen.Variegate Porphyria (VP) is an autosomal dominant disorder asso-􀁆􀁌􀁄􀁗􀁈􀁇􀀃􀁗􀁒􀀃􀁄􀀃􀁇􀁈􀃀􀁆􀁌􀁈􀁑􀁆􀁜􀀃􀁒􀁉􀀃􀁗􀁋􀁈􀀃􀁓􀁈􀁑􀁘􀁏􀁗􀁌􀁐􀁄􀁗􀁈􀀃􀁈􀁑􀁝􀁜􀁐􀁈􀀃􀁒􀁉􀀃􀁗􀁋􀁈􀀃􀁋􀁈􀁐􀁈􀀃􀁅􀁌􀁒-􀁖􀁜􀁑􀁗􀁋􀁈􀁗􀁌􀁆􀀃 􀁓􀁄􀁗􀁋􀁚􀁄􀁜􀀃 􀁗􀁋􀁈􀀃 􀀳􀁕􀁒􀁗􀁒􀁓􀁒􀁕􀁓􀁋􀁜􀁕􀁌􀁑􀁒􀁊􀁈􀁑􀀃 􀁒􀁛􀁌􀁇􀁄􀁖􀁈􀀑􀀃 􀀳􀁄􀁗􀁌􀁈􀁑􀁗􀁖􀀃 􀁚􀁌􀁗􀁋􀀃VP may present a broad spectrum of clinical manifestations char-􀁄􀁆􀁗􀁈􀁕􀁌􀁝􀁈􀁇􀀃􀁅􀁜􀀃􀁆􀁘􀁗􀁄􀁑􀁈􀁒􀁘􀁖􀀃􀁓􀁋􀁒􀁗􀁒􀁖􀁈􀁑􀁖􀁌􀁗􀁌􀁙􀁌􀁗􀁜􀀃􀁄􀁑􀁇􀀃􀁑􀁈􀁘􀁕􀁒􀁏􀁒􀁊􀁌􀁆􀁄􀁏􀀃􀁖􀁜􀁐􀁓􀁗􀁒􀁐􀁖􀀃􀁚􀁋􀁌􀁆􀁋􀀃􀁆􀁄􀁑􀀃􀁒􀁆􀁆􀁘􀁕􀀃􀁖􀁈􀁓􀁄􀁕􀁄􀁗􀁈􀁏􀁜􀀃􀁒􀁕􀀃􀁗􀁒􀁊􀁈􀁗􀁋􀁈􀁕􀀃􀁌􀁑􀀃􀁄􀁉􀁉􀁈􀁆􀁗􀁈􀁇􀀃􀁌􀁑􀁇􀁌􀁙􀁌􀁇􀁘􀁄􀁏􀁖􀀑􀀃􀀦􀁘-􀁗􀁄􀁑􀁈􀁒􀁘􀁖􀀃􀁓􀁋􀁒􀁗􀁒􀁖􀁈􀁑􀁖􀁌􀁗􀁌􀁙􀁌􀁗􀁜􀀃􀁌􀁖􀀃􀁆􀁋􀁄􀁕􀁄􀁆􀁗􀁈􀁕􀁌􀁝􀁈􀁇􀀃􀁅􀁜􀀃􀁖􀁎􀁌􀁑􀀃􀁉􀁕􀁄􀁊􀁌􀁏􀁌􀁗􀁜􀀏􀀃􀁈􀁕􀁒􀁖􀁌􀁒􀁑􀁖􀀏􀀃blisters, millia and pigmentary changes in sun exposed areas. Neurologicalsymptoms are similar to those of AIP.􀀷􀁚􀁒􀀃􀁐􀁄􀁌􀁑􀀃􀁋􀁜􀁓􀁒􀁗􀁋􀁈􀁖􀁈􀁖􀀃􀁈􀁛􀁓􀁏􀁄􀁌􀁑􀀃􀁗􀁋􀁈􀀃􀁓􀁄􀁗􀁋􀁒􀁊􀁈􀁑􀁈􀁖􀁌􀁖􀀃􀁒􀁉􀀃􀁑􀁈􀁕􀁙􀁒􀁘􀁖􀀃􀁖􀁜􀁖􀁗􀁈􀁐􀀃dysfunction: the ROS generation by autooxidation of 5-aminolevulin-􀁌􀁆􀀃􀁄􀁆􀁌􀁇􀀃􀁄􀁆􀁆􀁘􀁐􀁘􀁏􀁄􀁗􀁈􀁇􀀃􀁌􀁑􀀃􀁏􀁌􀁙􀁈􀁕􀀃􀁄􀁑􀁇􀀃􀁌􀁑􀀃􀁅􀁕􀁄􀁌􀁑􀀞􀀃􀁄􀁑􀁇􀀃􀁋􀁈􀁐􀁈􀀃􀁇􀁈􀃀􀁆􀁌􀁈􀁑􀁆􀁜􀀃􀁌􀁑􀀃􀁏􀁌􀁙􀁈􀁕􀀃and in neural tissues generating an oxidative status, a component ofthe neurodegenerative process.􀀺􀁈􀀃􀁕􀁈􀁙􀁌􀁈􀁚􀀃􀁕􀁈􀁖􀁘􀁏􀁗􀁖􀀃􀁒􀁅􀁗􀁄􀁌􀁑􀁈􀁇􀀃􀁉􀁕􀁒􀁐􀀃􀀤􀀬􀀳􀀃􀁄􀁑􀁇􀀃􀀹􀀳􀀃􀁉􀁄􀁐􀁌􀁏􀁌􀁈􀁖􀀃􀁖􀁗􀁘􀁇􀁌􀁈􀁇􀀃􀁄􀁗􀀃􀁆􀁏􀁌􀁑-ical, biochemical and molecular level at the CIPYP. The relationship􀁅􀁈􀁗􀁚􀁈􀁈􀁑􀀃􀁗􀁋􀁈􀀃􀁓􀁒􀁕􀁓􀁋􀁜􀁕􀁌􀁆􀀃􀁄􀁗􀁗􀁄􀁆􀁎􀀃􀁄􀁑􀁇􀀃􀁒􀁛􀁌􀁇􀁄􀁗􀁌􀁙􀁈􀀃􀁖􀁗􀁕􀁈􀁖􀁖􀀃􀁚􀁄􀁖􀀃􀁄􀁏􀁖􀁒􀀃􀁈􀁙􀁄􀁏􀁘􀁄􀁗-ed in AHP patients, to identify a marker of neurological dysfunction.We studied 116 AIP families and 30 VP families (609 and 132 in-􀁇􀁌􀁙􀁌􀁇􀁘􀁄􀁏􀁖􀀃􀁕􀁈􀁖􀁓􀁈􀁆􀁗􀁌􀁙􀁈􀁏􀁜􀀌􀀑􀀃􀀃􀀪􀁈􀁑􀁒􀁗􀁜􀁓􀁈􀀒􀁓􀁋􀁈􀁑􀁒􀁗􀁜􀁓􀁈􀀃􀁕􀁈􀁏􀁄􀁗􀁌􀁒􀁑􀀃􀁚􀁄􀁖􀀃􀁖􀁗􀁘􀁇􀁌􀁈􀁇􀀑􀀃􀀲􀁛􀁌􀁇􀁄􀁗􀁌􀁙􀁈􀀃􀁖􀁗􀁕􀁈􀁖􀁖􀀃􀁓􀁄􀁕􀁄􀁐􀁈􀁗􀁈􀁕􀁖􀀃􀁄􀁑􀁇􀀃􀁓􀁏􀁄􀁖􀁐􀁄􀀃􀀃􀁋􀁒􀁐􀁒􀁆􀁜􀁖􀁗􀁈􀁌􀁑􀁈􀀃􀁏􀁈􀁙􀁈􀁏􀁖􀀃􀁚􀁈􀁕􀁈􀀃measured in 20 healthy volunteers, 22 AIP and 12 VP individuals.􀀲􀁉􀀃􀁗􀁋􀁈􀀃􀀖􀀘􀀗􀀃􀁆􀁄􀁕􀁕􀁌􀁈􀁕􀁖􀀃􀁒􀁉􀀃􀁄􀁑􀀃􀀤􀀬􀀳􀀃􀁐􀁘􀁗􀁄􀁗􀁌􀁒􀁑􀀏􀀃􀀚􀀗􀀑􀀜􀀈􀀃􀁚􀁈􀁕􀁈􀀃􀁚􀁒􀁐􀁈􀁑􀀏􀀃􀀙􀀗􀀑􀀛􀀈􀀃􀁒􀁉􀀃􀁗􀁋􀁈􀁐􀀃􀁚􀁈􀁕􀁈􀀃􀀃􀁖􀁜􀁐􀁓􀁗􀁒􀁐􀁄􀁗􀁌􀁆􀀑􀀃􀀬􀁑􀀃􀀹􀀳􀀏􀀃􀀙􀀛􀀑􀀜􀀈􀀃􀁒􀁉􀀃􀁗􀁋􀁈􀀃􀁌􀁑􀁇􀁌􀁙􀁌􀁇􀁘􀁄􀁏􀁖􀀃􀁆􀁄􀁕􀁕􀁜􀀃􀁄􀀃􀁐􀁘􀁗􀁄􀁗􀁌􀁒􀁑􀀃􀁉􀁕􀁒􀁐􀀃􀁚􀁋􀁌􀁆􀁋􀀃􀀘􀀗􀀈􀀃􀁚􀁈􀁕􀁈􀀃􀀃􀁖􀁜􀁐􀁓􀁗􀁒􀁐􀁄􀁗􀁌􀁆􀀞􀀃􀁐􀁒􀁖􀁗􀀃􀁒􀁉􀀃􀁗􀁋􀁈􀁐􀀃􀁋􀁄􀁇􀀃􀁖􀁎􀁌􀁑􀀃􀁖􀁜􀁐􀁓􀁗􀁒􀁐􀁖􀀑􀀃􀀃􀀱􀁒􀀃􀁖􀁌􀁊􀁑􀁌􀃀􀁆􀁄􀁑􀁗􀀃􀁇􀁌􀁉-ference in oxidative stress parameters and homocysteine levels􀁅􀁈􀁗􀁚􀁈􀁈􀁑􀀃􀁗􀁋􀁈􀀃􀁊􀁕􀁒􀁘􀁓􀁖􀀃􀁄􀁑􀁄􀁏􀁜􀁝􀁈􀁇􀀃􀁚􀁄􀁖􀀃􀁉􀁒􀁘􀁑􀁇􀀑􀀃 syndrome including both neuropsychiatric symp