Isaac, Nikhila2025-03-292023-11Isaac, Nikhila. (2023). A retrospective study of the biochemical and radiological profile of children with genetic hypophosphatemic rickets and their response to conventional treatment. [Masterd dissertation, University of the Witwatersrand, Johannesburg]. WIReDSpace. https://hdl.handle.net/10539/44497https://hdl.handle.net/10539/44497Research report submitted in partial fulfillment for the degree of Masters of Medicine in Paediatrics, to the Faculty of Health Science, School of Clinical Medicine, at the University of the Witwatersrand, Johannesburg, 2023.Objectives: Assessing the biochemical and radiological profile of children with genetic hypophosphatemic rickets and their response to conventional treatment. Design: Retrospective descriptive study. Setting: Metabolic Bone clinic at Chris Hani Baragwanath Academic Hospital in Soweto, South Africa. Subjects: Children less than 18 years, attending the Metabolic Bone clinic from 1st January 2006 to April 2020, with genetic hypophosphatemic rickets, commenced on conventional treatment. Results: Seventy patients met the inclusion criteria. Majority of patients were black South African (n=54 (77%)). Positive family history seen in 32 (46%) patients. The patients were short statured with a mean height for age z score (HAZ) of - 3.4 ± 1.79. The mean calcium, phosphate, alkaline phosphatase, parathyroid hormone levels and median Thacher score was 2.3 ± 0.16 mmol/L, 0.84 ± 0.19 mmol/L, 776.6 ± 531 IU/L, 7.15 ± 4.8 pmol/L and 8 (4-8) respectively. Improvement on last follow up on treatment was seen in ALP (776 ±531 vs 525±232; p <0.001) and Thacher scores (8 (4-8) vs 2 (1-3.5); p =0.01) after 5 years, but no change in phosphate or HAZ. Conclusion: Conventional therapy for treatment of hypophosphatemic rickets is not associated with an improvement in HAZ despite an improvement in radiology and ALP. Adherence is a major challenge for the majority of patients.en©2023 University of the Witwatersrand, Johannesburg. All rights reserved. The copyright in this work vests in the University of the Witwatersrand, Johannesburg. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of University of the Witwatersrand, Johannesburg.Alkaline Phosphatase (ALP)Analysis of Covariance (ANOVA)Chris Hani Baragwanath Academic Hospital (CHBAH)Fibroblast Growth Factor 23 (FGF23)Phosphate regulating endopeptidase homologous on the X chromosomeParathyroid HormoneGenetic hypophosphatemic ricketsRicketsUCTDX-Linkco HypophosphatemiaConventional treatmentBurosumabDissertationUniversity of the Witwatersrand, JohannesburgSDG-3: Good health and well-beingSDG-4: Quality education