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BRIEF REPORT
Year : 2020  |  Volume : 3  |  Issue : 1  |  Page : 28-30

Nephropathic cystinosis: A cause of renal fanconi syndrome


1 Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital; Private Practice, Central Health Medical Practice; Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong
2 Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital; Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong
3 Department of Chemical Pathology, Prince of Wales Hospital; Department of Chemical Pathology, Hong Kong Children's Hospital, Hong Kong

Correspondence Address:
Euan Soo
Central Health Medical Practice, 3/F, Baskerville House, 13 Duddell Street, Central
Hong Kong
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_8_20

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We hereby describe a case of nephropathic cystinosis who presented as growth failure, polydipsia, and renal Fanconi syndrome. The diagnosis was based on demonstration of elevated leukocyte cystine content and mutations in CTNS. Management with oral cysteamine and cysteamine eyedrops along with adequate nutrition and appropriate supplements, was associated with improvement in growth and development.


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