Publikasi Scopus FKUI Tahun 2010 s/d 2020 (data Per 3 Februari 2021)

Ambarsari C.G., Cahyadi D., Sari L., Satria O., Sahli F., Darmadi T.L., Kadaristiana A.
57211850895;57214149677;57214156072;57196472120;57214152211;57214156631;57214116079;
Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report
2020
Renal Failure
42
1
113
121
5
Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia; Pediatric Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Orthopaedic Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Pathology Anatomy, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Department of Orthopaedic and Traumatology, Fatmawati Hospital, South Jakarta, Indonesia; Radiology Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Laboratory Unit, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia
Ambarsari, C.G., Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia, Pediatric Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Cahyadi, D., Orthopaedic Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Sari, L., Pathology Anatomy, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Satria, O., Orthopaedic Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia, Department of Orthopaedic and Traumatology, Fatmawati Hospital, South Jakarta, Indonesia; Sahli, F., Radiology Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Darmadi, T.L., Laboratory Unit, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia; Kadaristiana, A., Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia
Background: Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia. Case report: A 15-year-old male who had been diagnosed with cerebral palsy was referred to our hospital due to renal failure requiring emergency dialysis. The patient presented with three classic manifestations of LND: increased uric acid levels, neurological disorders, and self-injurious behaviors. LND was suspected because of an abscess-like lump on the left ankle that was confirmed to be a tophus, which had burst and discharged thick masses containing blood, debris, and white crystal materials. The diagnosis of LND was confirmed by the presence of a deletion to exon 1 of the HPRT1 gene. The patient received oral allopurinol daily and treatment for end-stage renal disease (ESRD), which included regular dialysis and subcutaneous administration of erythropoietin. At a 2-month follow-up, he improved clinically with a 71% decrease in uric acid levels after regular dialysis and allopurinol treatment. Conclusion: In developed countries, LND can be diagnosed as early as 3 days after birth. However, diagnosis in the present case was delayed due to the rarity of the disease and the limited number of facilities in Indonesia that offer genetic counseling. Late diagnosis of LND leads to ESRD and irreversible abnormalities. This is the first case of LND presenting with a unique clinical presentation of tophus burst reported in Indonesia. © 2020, © 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
case report; chronic kidney failure; gout; hyperuricemia; hypoxanthine; Lesch–Nyhan syndrome; phosphoribosyltransferase
allopurinol; calcitriol; calcium carbonate; erythropoietin; folic acid; uric acid; vitamin B complex; allopurinol; antigout agent; hypoxanthine phosphoribosyltransferase; uric acid; abscess; adolescent; ankle abscess; ankle edema; arthropathy; Article; automutilation; blood; bone biopsy; brain atrophy; case report; cerebral palsy; clinical article; clonus; computer assisted tomography; continuous ambulatory peritoneal dialysis; crystal; debridement; diet; diet supplementation; disease severity; dystonia; end stage renal disease; erythrocyte transfusion; exon; gene; gene deletion; genetic counseling; genetic screening; gout; hand abscess; hand edema; hemodialysis; hprt1 gene; human; human tissue; Indonesia; juvenile gouty arthritis; leg exercise; Lesch Nyhan syndrome; male; muscle hypotonia
Taylor and Francis Ltd
0886022X
REFAE
31985336
Article
Q2

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