Publikasi Scopus 2024 per tanggal 31 Mei 2024 (409 artikel)

293

Authors

Ahani A.R.; Irawan C.; Harahap A.S.; Yuliarti K.; Ham M.F.; Izzaty F.N.; Sjarif D.R.

Author_Full_Names

Ahani, Ardhi Rahman (58976865900); Irawan, Cosphiadi (28767651600); Harahap, Agnes Stephanie (57218511857); Yuliarti, Klara (54917483500); Ham, Maria Francisca (7004830001); Izzaty, Faramitha Nur (58976730600); Sjarif, Damayanti Rusli (6506242684)

Author S Id

58976865900; 28767651600; 57218511857; 54917483500; 7004830001; 58976730600; 6506242684

Title

Gaucher Disease: A First Reported Adult Case in Indonesia

Year

2024

Source Title

Acta Medica Indonesiana

Volume

Issue

Art No

Page Start

Page End

Page Count

Cited By

Link

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85189819646&partnerID=40&md5=49c4ef5196356487ea95de019f7c9bef

Affiliations

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

Authors With Affiliations

Ahani A.R., Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Irawan C., Division of Hematology and Medical Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Harahap A.S., Department of Anatomical Pathology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Yuliarti K., Division of Metabolic and Genetic, Department of Pediatric, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Ham M.F., Department of Anatomical Pathology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Izzaty F.N., Department of Anatomical Pathology, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia; Sjarif D.R., Division of Metabolic and Genetic, Department of Pediatric, Faculty of Medicine, Universitas Indonesia – Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Abstract

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.

Author Keywords

Gaucher Disease; Pancytopenia; Splenomegaly

Index Keywords

Adult; Diagnosis, Differential; Female; Gaucher Disease; Humans; Indonesia; Pancytopenia; Splenomegaly; adult; case report; differential diagnosis; female; Gaucher disease; human; Indonesia; pancytopenia; pathology; splenomegaly

Funding Details

Funding Text

Publisher

Indonesian Society of Internal Medicine

Issn

01259326

Isbn

Pubmed Id

38561877

Document Type

Article

Sjr Best Quartile

Sjr

282

Sjr Rank

15714