Producción CyT
Congreso
Autoría
Melito, V
;
Varela, L. S.
;
Martinez, C
;
Goñi, V
;
Orquera, C
;
Baccaro, F
;
Herrando, S
;
Merlo, G
;
Sánchez Gelós, D
;
Pasman, M
;
Ana María Buzaleh
;
Tomassi, L.
;
Parera, V
Fecha
2024
Editorial y Lugar de Edición
British Society of Gastroenterology
Resumen
Información suministrada por el agente en
SIGEVA
Acute Intermittent Porphyria (AIP), Variegate Porphyria (VP) and Hereditary Coproporphyria (HCP) are Hepatic Acute Porphyrias inherited as autosomal dominant traits caused by a defect in the genes that encode porphobilinogen deaminase, protoporphyrinogen oxidase or coproporphyrinogen oxidase, respectively. Clinical expression typically occurs aer puberty; environmental and other factors as fasng, drugs, alcohol, steroid hormones are potenally triggers of acute a...
Acute Intermittent Porphyria (AIP), Variegate Porphyria (VP) and Hereditary Coproporphyria (HCP) are Hepatic Acute Porphyrias inherited as autosomal dominant traits caused by a defect in the genes that encode porphobilinogen deaminase, protoporphyrinogen oxidase or coproporphyrinogen oxidase, respectively. Clinical expression typically occurs aer puberty; environmental and other factors as fasng, drugs, alcohol, steroid hormones are potenally triggers of acute aacks. These attacks often begin with abdominal pain followed by the development of peripheral neuropathy and central nervous system manifestations. During 2021-2023, eleven women between 25 and 50 years old developed attacks of AIP, another woman developed VP and a man developed HCP. All patients were treated with Normosang (3-4mg/kg for four days). In AIP group, five patients received only one treatment, five received two and one paent received Hemin treatment in three occasions. For nine patients, Heminwas used during the first aack, at the date of diagnosis; eight of them were the first case in their families. Genetic study of the HMBS gene (NM_000190.4, LRG_1076), revealed that four of these paents carried the most prevalent variant in Argenna, c.331G>C (p.Gly111Arg). Each of the other paents presented different variants: c.849G>A (p.Trp283Ter), c.145delp. (Leu49Cysfs*49), IVS8-1G>T (c.423-1G>T), c.913-1G>A (p.?, causing deleon of exon 15), c.517C>T (p.Arg173Trp), c.652-2A>G (p.?,causing deleon of exon 12). The VP paent developed her first attack at 32 years old and was the first member of her family. The HCP patient triggered his first attack at 39 years old, being also the first in his family. In these two cases, as well as in two of the AIP patients, Hemin treatment was administered more than one month after the onset of the attack due to the delay in the diagnosis, as clinicians did not initially consider Porphyria. These cases required more time for remission. Currently, all patients are in recovery, maintaining an adequate diet and receiving prescriptions for folic acid, vitamin B and glucose. Although it is recommended that Hemin must be administrated within the first fiteen days of the acuteattack, our experience suggests that Hemin treatment can still be effecve even when is administered later.
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