Abstract:
:Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection. A correct diagnosis can significantly improve the quality and life expectancy of these patients. We present the case of a child with congenital erythropoietic porphyria confirmed by genetic analysis. :La porfiria eritropoyética congènita es una porfiria cutánea no aguda, extremadamente poco frecuente, autosómica recesiva, producida por la deficiencia de la enzima uroporfirinógeno III sintetasa codificada en el gen UROS, en el cromosoma 10q26.2. Esto genera el depósito y la acumulación de porfirinas en las córneas, los huesos y los dientes. Se presenta desde los primeros meses de vida con intensa fotosensibilidad, que se manifiesta con fragilidad cutánea con formación de vesículas, bulas y costras. El curso grave lleva a la mutilación de tejidos acrales, compromiso ocular, anemia hemolítica e hiperesplenismo. El manejo es complejo, basado, sobre todo, en la fotoprotección. Un correcto diagnóstico y enfrentamiento puede mejorar notablemente la calidad y expectativas de vida de estos pacientes. Se presenta el caso de un lactante con porfiria eritropoyética congénita confirmada con el estudio genético.
journal_name
Arch Argent Pediatrjournal_title
Archivos argentinos de pediatriaauthors
Salomone B C,Ogueta C I,Reyes V C,Durán S G,Aguirre N,Wietstruck Adoi
10.5546/aap.2018.e300subject
Has Abstractpub_date
2018-04-01 00:00:00pages
e300-e302issue
2eissn
0325-0075issn
1668-3501journal_volume
116pub_type
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