Prisilla, Elvina (2021) GAUCHER’S DISEASE. PERAMI. (Unpublished)

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Background : Gaucher ((go-SHAY )disease is a rare genetic disorder in which a
person lacks an enzyme called glucocerebrosidase (GBA).1 Gaucher disease is an
autosomal recessive inherited disorder of metabolism where a type of fat (lipid)
called glucocerebroside cannot be adequately degraded. Genome. The lack of the
GBA causes harmful substances to build up in the lung, liver, spleen, bones, and
bone marrow, brain and eyes. These substances prevent cells and organs from
working properly.There are three recognized Types of Gaucher disease and each
has a wide range of symptoms. Type 1 is the most common, does not affect the
nervous system and may appear early in life or adulthood. Many people with Type
1 Gaucher disease have findings that are so mild that they never have any problems
from the disorder. Type 2 and 3 do affect the nervous system.1,2
Case Presentation : A man, 27th go to the hospital with pain at upper of left knee,
swollen since 3 week ago, hipertension (-), DM (-), history of left knee operation.
Traumatic hystory(-). HB : 14,9mmgr/dl, AL 7,6. AT 186, HMT 43,8%, GDS 95
mg/dl, APTT 34,4. PPT: 11,6, diff eosinophil : 3,2
Conclusion : From the symptoms dan clinical finding from this patient we can
make conclusion, the case is typical gaucher disease type 1

Item Type: Artikel Umum
Subjects: R Medicine > R Medicine (General)
Divisi / Prodi: Fakultas Kedokteran > S1 - Kedokteran
Depositing User: dr. Elvina Prisila
Date Deposited: 08 Sep 2022 03:59
Last Modified: 08 Sep 2022 03:59

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