Hemocromatosis hereditaria
نویسندگان
چکیده
La hemocromatosis hereditaria o genética engloba a un grupo de trastornos en los que distintas mutaciones generan una sobrecarga hierro afecta diferentes órganos y sistemas. Esta enfermedad librada su historia natural puede provocar cirrosis, hepatocarcinoma, diabetes mellitus artropatías entre otras patologías. El compromiso uno más componentes del eje hepcidina-ferroportina sistema metabolismo es el común denominador distintos tipos hereditaria. mutación gen HFE C282Y la frecuentemente detectada pacientes norte Europa descendencia. diagnóstico se sustenta fenotipo bioquímico, resonancia magnética muestra hepático detección C282Y, ausencia comorbilidades. Sin embargo, Sudamérica poco frecuente, modificando algoritmo para realizar enfermedad. Los tratamientos elección pueden revertir afectados por son las flebotomías eritroaféresis.
منابع مشابه
Thrombocytopenia in dyschromatosis universalis hereditaria.
A 14-year old boy presented to causality medical ward with history of left side chest pain and asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. There was no history of photophobia or photosensitivity. They were born to healthy, non consanguineous parents, following an uneventful pregnancy. His mothe...
متن کاملDyschromatosis Symmetrica Hereditaria of Late Onset?
Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. It is necess...
متن کاملDyschromatosis symmetrica hereditaria: a pedigree study
Dyschromatosis symmetrica hereditaria (DSH), also known as reticulate acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypoand hyper-pigmented macules in varying sizes on the dorsal extremities with reticulated pattern. This paper presents an unmarried Chinese male patient with typical dermatological lesions. Four generations of the family with 2...
متن کاملDyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme
Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal-dominant skin disease. It is characterized by a mixture of hyperand hypo-pigmented macules on the dorsal aspects of the hands and feet (Figure 1). The disorder typically has its onset during infancy or early childhood, stops spreading before adolescence and lasts for life. It was clarified in 2003 that a heterozygous mu...
متن کاملDyschromatosis Universalis Hereditaria with Renal Failure
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta gastroenterologica Latinoamericana
سال: 2023
ISSN: ['0300-9033', '2469-1119']
DOI: https://doi.org/10.52787/agl.v53i2.303