Lopez-Garcia, Sergio Camilo;
(2025)
Investigations into rare kidney disorders.
Doctoral thesis (Ph.D), UCL (University College London).
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Abstract
An inherent feature of rare diseases is the scarcity of data to better define management and prognosis. International collaborations facilitate information sharing and can help overcome these challenges. With support from international scientific networks, this project has gathered and analysed data from large cohorts with very rare inherited conditions, that addressed relevant research questions to inform routine clinical practice. The dRTA Cohort (N=340) analysed paediatric and adult clinical, genetic and demographic data from 29 countries. Long-term outcomes showed reduced stature in adults, increased prevalence of chronic kidney disease (CKD) from paediatric age (35%) to adults (82%), large prevalence of nephrocalcinosis (88%), urolithiasis (21-42%) and hearing loss. Adequate metabolic control was positively correlated with countries’ wealth (GDP), but also with better kidney function and final height, highlighting the impact of health care access’ inequalities on long term outcomes. The NDI Cohort (N=315) reported on patients from a total of 22 countries. Long term outcome showed normal height but unexpectedly an increased prevalence of obesity in adults (41%). NDI patients also had an increased prevalence of CKD (children 32%; adults 48%) and urological complications (38%). While education and employment outcomes were satisfactory, there was a high proportion with mental health problems (36%). A large paediatric urolithiasis cohort (N=141) was also analysed providing informative medical and surgical outcomes. This report showed a varied number of atypical features on presentation in children: including bilateral stone formation, high prevalence of metabolic abnormalities and a larger than expected prevalence of CKD. Finally, a large cohort of paediatric cystinuria patients (N=52) showed a high prevalence of comorbidities and a reassuring profile of thiol drugs regarding safety and efficacy.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | Ph.D |
| Title: | Investigations into rare kidney disorders |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2025. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | 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 Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10218133 |
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