Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humansand in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in p...Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humansand in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in pink colorationand fluorescence of the tissues and urine under long-wave ultraviolet (UV) light. We observed red teeth in nine of450 canefield rats (Rattus sordidus) captured in a small, isolated patch of sugarcane in Tully, north Queensland,Australia. The skeletons of these animals were excised and were found to be bright red under normal day light.Under UV light, the skeleton had a bright red fluorescence. It is plausible that the canefield rat population in thisisolated patch of sugarcane is small and inbreeding might have occurred, resulting in incidences of the autosomalrecessive genes that cause CEP. The canefield rat can be used as an animal model for research into porphyria.展开更多
BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These s...BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These symptoms result from the overproduction and accumulation of porphyrin precursors,5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG).The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred.Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.METHOD:Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.RESULT:LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.CONCLUSION:LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.展开更多
文摘Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive condition that has been reported in humansand in some animals, in which uroporphyrin 1 is deposited in the bones, teeth and urine, resulting in pink colorationand fluorescence of the tissues and urine under long-wave ultraviolet (UV) light. We observed red teeth in nine of450 canefield rats (Rattus sordidus) captured in a small, isolated patch of sugarcane in Tully, north Queensland,Australia. The skeletons of these animals were excised and were found to be bright red under normal day light.Under UV light, the skeleton had a bright red fluorescence. It is plausible that the canefield rat population in thisisolated patch of sugarcane is small and inbreeding might have occurred, resulting in incidences of the autosomalrecessive genes that cause CEP. The canefield rat can be used as an animal model for research into porphyria.
文摘BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These symptoms result from the overproduction and accumulation of porphyrin precursors,5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG).The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred.Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.METHOD:Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.RESULT:LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.CONCLUSION:LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
