Publications by authors named "Rhian L Clissold"

Background: More than 4 billion doses of the Coronavirus disease (COVID-19) vaccine have been administered worldwide but the relationship between the different vaccines and the development of renal disease is unknown. We present a case of tubulointerstitial nephritis following administration of the Oxford-AstraZeneca COVID-19 vaccine.

Case Presentation: A previously fit and well 51-year-old female presented on 27th May 2021 with a one-month history of weight loss, fatigue, nausea, and a metallic taste.

View Article and Find Full Text PDF

Background: Heterozygous mutations in the gene are the most common monogenic cause of developmental kidney disease. Extrarenal phenotypes frequently occur, including diabetes mellitus and pancreatic hypoplasia; the latter is associated with subclinical exocrine dysfunction. We measured faecal elastase-1 in patients with HNF1B-associated disease regardless of diabetes status and assessed the degree of symptoms associated with pancreatic exocrine deficiency.

View Article and Find Full Text PDF
Article Synopsis
  • Heterozygous mutations in the HNF1B transcription factor are the leading cause of monogenic renal developmental diseases, with mutations categorized into intragenic mutations and a significant deletion at chromosome 17q12.
  • Individuals with the 17q12 deletion show an increase in neurodevelopmental disorders, prompting a study to compare DNA methylation profiles between patients with HNF1B mutations, deletion carriers, and healthy controls.
  • The study found significant differences in DNA methylation patterns primarily in the deletion group, indicating a regulatory response to HNF1B haploinsufficiency and revealing a common methylation signature in both mutation and deletion groups.
View Article and Find Full Text PDF

Introduction: Young adults fare worse than younger adolescents or older adults on a broad range of health indicators. Those with a chronic illness such as renal failure are a particularly vulnerable group, who experience poor outcomes compared with both children and older adults. Understanding how being in receipt of renal replacement therapy (RRT) affects the lives of young adults might help us to better prepare and support these individuals for and on RRT, and improve outcomes.

View Article and Find Full Text PDF

Background And Objectives: Young adults receiving RRT face additional challenges in life. The effect of established kidney failure on young adulthood is uncertain. We aimed to establish the psychosocial and lifestyle status of young adults receiving RRT.

View Article and Find Full Text PDF

Background: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutation discovered in an individual after forty years of renal disease.

Case Presentation: A 57 year old Caucasian woman with chronic kidney disease stage five was reviewed in a regional joint renal genetics clinic.

View Article and Find Full Text PDF

Heterozygous mutations of the HNF1B gene are the commonest known monogenic cause of developmental kidney disease. Half of patients have a deletion (approximately 1.3 Mb) of chromosome 17q12, encompassing HNF1B plus 14 additional genes.

View Article and Find Full Text PDF

Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur. Extra-renal phenotypes might also be observed; consequently, HNF1B-associated disease is considered a multi-system disorder.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_session25j60n2pds0hkgo6663473d77p1jl7dj): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once