[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient]. / Diffuse hyperkeratotische Papeln am unteren Abdomen und im Genitalbereich bei einem 38jährigen Patienten.
Internist (Berl)
; 61(6): 621-625, 2020 Jun.
Article
em De
| MEDLINE
| ID: mdl-32367302
ABSTRACT
A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme αgalactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Terapia de Reposição de Enzimas
Idioma:
De
Ano de publicação:
2020
Tipo de documento:
Article