Riset dan Pengabdian Masyarakat
Do Research Sosial Service and Innovation
Publikasi Scopus 2024 per tanggal 30 April 2024 (334 artikel)
Publikasi Scopus 2024 per tanggal 30 April 2024 (334 artikel)
Ahani, Ardhi Rahman (58976865900); Irawan, Cosphiadi (28767651600); Harahap, Agnes Stephanie (57218511857); Yuliarti, Klara (54917483500); Ham, Maria Francisca (58976730500); Izzaty, Faramitha Nur (58976730600); Sjarif, Damayanti Rusli (6506242684)
Gaucher Disease: A First Reported Adult Case in Indonesia
2024
Acta Medica Indonesiana
56
1
69
75
6
0
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85189819646&partnerID=40&md5=49c4ef5196356487ea95de019f7c9bef
Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Department of Anatomical Pathology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Division of Metabolic and Genetic, Department of Pediatric, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia
A 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio. The abdominal ultrasonography revealed splenomegaly, cholelithiasis, and cystitis, and the bone survey showed osteopenia. Differential diagnoses included leukemia, multiple myeloma, and myelofibrosis therefore bone marrow puncture was performed. However, histopathologic examination found Gaucher-like cells in the bone marrow aspiration. The finding of CD68 positivity in Gaucher-like cells by using the immunohistochemistry staining supporting Gaucher disease. To confirm the diagnosis, an examination of glucocerebroside substrate from the patient’s blood plasma was performed. Glucosylsphingosine, a deacylated form of glucosylceramide, was markedly elevated. Therefore, the diagnosis of Gaucher disease was confirmed. This is the first reported adult Gaucher case diagnosed in Indonesia. © 2024, Indonesian Society of Internal Medicine. All rights reserved.
Adult; Diagnosis, Differential; Female; Gaucher Disease; Humans; Indonesia; Pancytopenia; Splenomegaly; adult; case report; differential diagnosis; female; Gaucher disease; human; Indonesia; pancytopenia; pathology; splenomegaly
Indonesian Society of Internal Medicine
01259326
38561877
Article
Q3
282
15714