P01-026 – A case of FMF and hereditary coproporphyria
نویسندگان
چکیده
منابع مشابه
P01-026 – A case of FMF and hereditary coproporphyria
Introduction We report a unique case in a 17 year old male patient of Algerian origin with two rare genetic conditions with overlapping clinical symptoms. Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serositis. Hereditary coproporphyria (HCP) is one of the type of acute hepatic porphyria resulting in neuroviscer...
متن کاملHereditary 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 کاملP01-043 – Comparative characteristic of FMF and FMF with HSP
Methods Clinical studies conducted in 61 non complicated of amyloidosis FMF children in the Republican FMF Children Center, Center “Arabkir”. The age of the patients varies from 5-15. Three patients of FMF are accompanied with HSP. We are selected as a control group of 11 healthy people in practice.Biochemical studies carried out in Hematological Center of Armenia. In erythrocytes of membrane w...
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 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 ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a30