RESUMO
Falls are common in the elderly, often causing considerable morbidity and mortality. Prevention is therefore important and is based on determining the cause. We present an elderly patient who had multiple falls during the day due to recurrent daytime sleep episodes, an entity we believe has not previously been reported.
Assuntos
Acidentes por Quedas , Narcolepsia/diagnóstico , Idoso , Evolução Fatal , Feminino , Humanos , Narcolepsia/complicações , OxigenoterapiaRESUMO
Acute porphyria afflicts a large kindred in Chester that stems from a marriage in 1896 that has produced 200 descendants; this is the largest porphyric kindred to be identified in the United Kingdom. Six members aged 51 or under died from the condition over the past eight years. The diagnosis of porphyria was overlooked in some as the symptoms may mimic those of other acute illnesses, so that incomplete or incorrect death certificates have been issued. Psychosis, hypertension, and renal complications are particularly common. The porphyric members of the kindred show a previously undescribed hereditary disorder in which the characteristic enzymatic defects of acute intermittent porphyria and variegate porphyria coexist in the same subject. Acute porphyria is poorly understood by hospital and general practitioners, and this has caused anxiety in the kindred. A register of the kindred has been established, and families at risk should be offered biochemical screening, education, and genetic counselling.
Assuntos
Hepatopatias/genética , Porfirias/genética , Doença Aguda , Adolescente , Adulto , Inglaterra , Feminino , Humanos , Hepatopatias/metabolismo , Hepatopatias/mortalidade , Masculino , Pessoa de Meia-Idade , Linhagem , Porfirias/metabolismo , Porfirias/mortalidade , Estudos Retrospectivos , RiscoRESUMO
A previously unrecognised form of acute porphyria has been identified in a large family in Chester, UK. Patients presented with attacks of neurovisceral dysfunction and none had experienced cutaneous photosensitivity. Biochemically, the excretion pattern of haem precursors varied between individuals; some had a pattern typical of acute intermittent porphyria, others showed that of variegate porphyria, and some had an intermediate pattern. Studies of the enzymes of haem biosynthesis in peripheral blood cells showed a dual enzyme deficiency, with reduced activity of both porphobilinogen deaminase, as seen in acute intermittent porphyria, and protoporphyrinogen oxidase, as seen in variegate porphyria. The genetic basis of this dual form of acute porphyria and its relation to the other acute porphyrias are not clear.
