Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report-Reference-Cited by-同舟云学术

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Published:2020-01-01 Issue:1 Volume:42 Page:113-121
ISSN:0886-022X
Container-title:Renal Failure
language:en
Short-container-title:Renal Failure

Author:

Ambarsari Cahyani Gita¹²,Cahyadi Daffodilone³,Sari Lenny⁴,Satria Oryza³⁵,Sahli Felly⁶,Darmadi Thyrza Laudamy⁷,Kadaristiana Agustina¹

Affiliation:

1. Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia

2. Pediatric Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia

3. Orthopaedic Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia

4. Pathology Anatomy, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia

5. Department of Orthopaedic and Traumatology, Fatmawati Hospital, South Jakarta, Indonesia

6. Radiology Centre, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia

7. Laboratory Unit, Pondok Indah Bintaro Jaya Hospital, South Tangerang, Indonesia

Publisher

Informa UK Limited

Subject

Nephrology,Critical Care and Intensive Care Medicine,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/0886022X.2020.1713805

Reference31 articles.

1. Hamosh A. Lesch-Nyhan syndrome; LNS [Internet]. Online Mendelian Inherit. Man. 2017; [cited 2018 Nov 12]. Available from: https://www.omim.org/entry/300322.

2. Lesch–Nyhan Syndrome

3. Puig JG, Jimenez RT. Lesch Nyhan syndrome [Internet]. Orphanet. 2010; [cited 2018 Nov 12]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510.

4. Lesch–Nyhan disease in a 20-year- old man incorrectly described as developing ‘cerebral palsy’ after general anaesthesia in infancy

5. A population study of Lesch-Nyhan disease in the UK

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