Hepatic porphyria in early youth and childhood. An unfrequent manifestation

MELITO, VIVIANA ALICIA; ROSSETTI, MARÍA VICTORIA; GRANATA, BEATRIZ XOANA; GEREZ, ESTHER; BATLLE, ALCIRA; PARERA, VICTORIA ESTELA

Estocolmo - Suecia

Congreso; BERZELIUS SYMPOSIUM 81- PORPHYRINS AND PORPHYRIAS 2009; 2009

Hepatic porphyria in early youth and childhood. An  unfrequent manifestation.” Melito V, Rossetti MV, Granata X, Gerez E,  Batlle, A  y Parera V   Disorders along the heme biosynthetic pathway are responsible of  porphyrias, a group of metabolic diseases wich predominantly results from inherited enzymatic deficiencies.  At  least  can be differentiated eight   forms of porphyrias wich are clinically and genetically heterogeneous. The catalytic deficiency of specific enzymes can be inherited in an autosomal dominant  or recessively trait or can also be acquired in a type of Porphyria Cutanea Tarda (PCT). Porphyrias are classified in erythropoietic and hepatic or in cutaneous, acute or mixed. Erythropoietic porphyrias are present since birth or early childhood. Unlike hepatic porphyrias such as  PCT, Acute Intermittent Porphyria (AIP), Variegate Porphyria (VP)  and Hereditary Coproporphyria (HCP)   usually occur in adult life.  However development of  these  pathologies   are described in childs and juvenils. We present  26 patients with PCT,  9 AIP, 3 VP and 1 HCP. Content of urine  ALA,  PBG and porphyrins (UP), plasma porphyrin index (PPI), faecal porphyrins (FP), red blood cells (RBC) enzymatic activity were determinate. Genes  encoding defective enzymes were amplified and sequenced automatically. In PCT group UP (831-9861ug/24 h) and PPI (1,63-8,60)   values were similar to adult PCT group. In acute porphyrias,  ALA, PBG, UP and PPI values were altered in each type of porphyria: AIP ALA: 5-25  mg/24h; PBG: 60-90 mg/24h; UP: 1500-10000ìg/24h; PPI: 2-4 (l= 619nm); PV  ALA: 3-8  mg/24h; PBG: 6-18 mg/24h; UP: 500-2500ìg/24h; IPP: 7-12 (l= 625nm); PTMF: 1500-2000 ìg/g; CPH PTO: 1700ìg/24h; IPP: 1,5 (l= 619nm); PTMF: 113 ìg/g. Normal value: ALA: £ 4  mg/24h; PBG: £ 2 mg/24h; UP: 20-250ìg/24h; PPI: £1,30 (l= 619nm); FP: 30-130 ìg/g. In all cases enzyme activity was 50% diminished