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.
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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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