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Title: Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up
Authors: Mishra, Bijaya
Bhatta, Nisha Keshary
Pokhrel, Anupam
Lamsal, Madhab
Citation: MishraB., BhattaN. K., Pokhrel A., & LamsalM. (2023). Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up. Journal of Nepal Health Research Council, 20(3), 797-800.
Issue Date: 2022
Publisher: Nepal Health Research Council
Keywords: Case report
Series/Report no.: July-Sep, 2022;4175
Abstract: Abstract Cystinuria is an autosomal recessive defect in re-absorptive transport of amino acids: cysteine, ornithine, arginine and lysine from renal proximal convoluted tubules leading to urinary excretion of these amino acids. The phenotypic manifestations are recurrent urolithiasis, hematuria, flank pain and frequent urinary tract infection. An eighteen years old boy, diagnosed case of cystinuria at the age of two years is presented in this case report highlighting the atypical presentation of recurrent infections with multiple organ involvement. The challenges in establishing the diagnosis and the role of simple biochemical tests in confirming the diagnosis in a poor resource setup is highlighted. Performance of simple biochemical tests in the urine sample of this patient was done for the utility of these tests for future diagnostic purpose in any suspected cases of cystinuria in our set up. Keywords: Case report; cystinuria; Nepal.
Description: Case Report
ISSN: Print ISSN: 1727-5482; Online ISSN: 1999-6217
Appears in Collections:Vol 20 No 3 Issue 56 july-Sep, 2022

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