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Joubert syndrome diagnosed renally late

Collard, E; Byrne, C; Georgiou, M; Michaelides, M; Dixit, A; (2021) Joubert syndrome diagnosed renally late. Clinical Kidney Journal , 14 (3) pp. 1017-1019. 10.1093/ckj/sfaa007. Green open access

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Abstract

Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults. We report a 61-year-old female diagnosed with AHI1-related oculorenal Joubert syndrome, who presented initially with decline in renal function in her 50s. Our report describes exceptionally late presentation of renal disease in Joubert syndrome and highlights the importance of continued renal function monitoring in older adults with Joubert syndrome.

Type: Article
Title: Joubert syndrome diagnosed renally late
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/ckj/sfaa007
Publisher version: https://doi.org/10.1093/ckj/sfaa007
Language: English
Additional information: © The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/).
Keywords: AHI1 mutation, CKD, Joubert syndrome, molar tooth sign, nephronophthisis, prognosis, retinal dystrophy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10125862
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