Hereditary Coproporphyria
نویسندگان
چکیده
منابع مشابه
Hereditary coproporphyria.
Hereditary coproporphyria, a form of acute hepatic porphyria, is a rare Mendelian autosomal dominant inherited condition with incomplete penetrance. The acute attack is usually followed by complete remission, but death may occur. Latent cases are recognised, and the characteristic neurovisceral symptoms and signs are shared by many other conditions. Acute porphyria should be considered in the d...
متن کاملHereditary coproporphyria and epilepsy.
A 9-year-old boy with mental deterioration and epilepsy suffered an acute attack of hereditary coproporphyria associated with worsening of seizure control. Leucocyte coproporphyrinogen oxidase activity was undetectable in the patient during this attack, and was reduced in his mother, a latent case. The complex relationship between porphyria, epilepsy, and anticonvulsant drugs is discussed.
متن کاملNeuropathic pain in hereditary coproporphyria
Acute porphyrias are rare diseases with varying incidences worldwide. These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms. Acute porphyria should be considered in patients with unexplained abdominal pain or neurological damage. Clinical manifestations of acute porphyria are nonspecific and are associated with multiple organ systems. This rep...
متن کاملHarderoporphyria : A Variant Hereditary Coproporphyria
a high level of coproporphyrin in their urine and feces; the pattern of fecal porphyrin excretion was atypical for hereditary coproporphyria because the major porphyrin was harderoporphyrin (>60%; normal value is <20%). The lymphocyte coproporphyrinogen III oxidase activity of each patient was 10% of control values, which suggests a homozygous state. Both parents showed only mild abnormalities ...
متن کاملNeonatal-onset hereditary coproporphyria with male pseudohermaphrodism.
The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for hardero...
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ژورنال
عنوان ژورنال: BMJ
سال: 1955
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.2.4931.85