A5026162007- Ion Transport and Channel Regulation
- Renal Diseases and Glomerulopathies
- Cardiac electrophysiology and arrhythmias
- Neonatal Health and Biochemistry
- Acute Myeloid Leukemia Research
- Ion channel regulation and function
- Dialysis and Renal Disease Management
- Renal and related cancers
- Genomics and Rare Diseases
- Pediatric Urology and Nephrology Studies
- Acute Kidney Injury Research
- Cholesterol and Lipid Metabolism
- Chronic Lymphocytic Leukemia Research
- ATP Synthase and ATPases Research
- Pancreatic function and diabetes
- Child and Adolescent Health
- Multiple Myeloma Research and Treatments
- Adolescent and Pediatric Healthcare
- Neuroendocrine regulation and behavior
- Metabolism and Genetic Disorders
- Peptidase Inhibition and Analysis
- Gout, Hyperuricemia, Uric Acid
- Acute Lymphoblastic Leukemia research
- Nephrotoxicity and Medicinal Plants
- Vascular Malformations and Hemangiomas
University of Bristol
2015-2025
Bristol Royal Hospital for Children
2009-2025
Long Island University
2025
University Hospitals Bristol and Weston NHS Foundation Trust
2023-2024
Great Ormond Street Hospital
2023
University College London
2023
North Bristol NHS Trust
2023
Southmead Hospital
2023
University Hospitals Bristol NHS Foundation Trust
2023
Genomics England
2023
Abstract Background and hypothesis ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) deafness. Heterozygous predicted to affect specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has unclear. We hypothesised that these dominant disease mechanism. Methods Retrospective analysis cases identified our genetic laboratories through European nephrology...
Bariatric surgery is the most effective treatment option for patients with refractory morbid obesity to help facilitate weight-loss and reduce long-term metabolic morbidity mortality. Over 200,000 procedures are performed annually in United States sleeve gastrectomy being common surgical approach. However, growing popularity of bariatric interventions has led an increase incidental findings gastrointestinal neoplasms intraoperative specimens. We report our experience performing a robotic...
Objective IgA vasculitis (IgAV) is the most frequently experienced subtype of seen in children. Most children fully recover, however, complications including chronic kidney disease are recognised. The aim this project was to use a best available evidence, group agreement, based approach develop national recommendations for initial management IgAV and its associated complications. Methods A representative multiprofessional guideline development (GDG), consisting 28 members, formed met...
Abstract Aim To audit compliance with the 2007 National Institute of Clinical Excellence guidelines on management urinary tract infection in children under age 16 years across primary and secondary care services England. Methods A retrospective multisite 10 general practice, 3 paediatric, 2 paediatric emergency units. Four distinct geographical areas were represented. Data collected between 1 January 2010 31 December 2010. Six criteria audited, which focused following: improving rate...
Aims To describe the aetiologies of paediatric rhabdomyolysis and explore medium‐term renal consequences. Methods Retrospective, single‐centre review children with rhabdomyolysis. Results Two hundred thirty‐two met inclusion criteria for analysis. Mean age at presentation was 8.4 (SD ± 5.5) years. The commonest aetiology infection (28%), viral myositis making up clear majority (75%). Trauma identified as a cause in 18% children, seizures 10% immune‐mediated mechanisms 8%. Acute kidney injury...
Summary Earlier studies have indicated a role for serum lactic dehydrogenase (LDH) in haematological and other malignancies. As this is still not routine test many units, its value has been re-examined retrospective analysis of LDH levels 278 patients with malignancies managed single unit. Abnormal at diagnosis were found 42% these disorders; yet over 23 000 requests biochemical screen showed only 4% an abnormal level. The estimation was also valuable follow-up those patients, rising often...
We present the case of a young boy with Dent's disease, identified as having mutation in kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated recombinant hormone. later presented acutely hepatorenal failure thrombotic occlusion middle right hepatic veins consistent diagnosis Budd-Chiari syndrome, which required prolonged period intensive care. The disease should be...
A 1-month-old male infant presented unwell with a fever and shock. Blood tests showed hypernatraemia, hyperchloraemia raised urea creatinine. Initially, he was treated for dehydration secondary to sepsis. However, high urine output combined low osmolality plasma suggestive of disorder arginine vasopressin (AVP), previously called diabetes insipidus (DI). On further endocrine testing, thyroxine (T4) level an inappropriately normal thyroid-stimulating hormone no other anterior pituitary...
<h3>Introduction</h3> Non-steroid anti-inflammatory drugs (NSAIDs), including ibuprofen, are widely available without prescription in the UK. They prescribed to children as an analgesic and or antipyretic due proven efficacy safety profile.<sup>1 2</sup> NSAIDs can be nephrotoxic, with acute tubulointerstitial nephritis (TIN) reported account for around 20% of NSAID-associated kidney injury (AKI).<sup>3 4</sup> <h3>Objectives</h3> To describe clinical laboratory findings induced TIN...
Summary The presenting features of 120 consecutive cases myeloma diagnosed in a single unit were examined. Screening tests on routine laboratory samples increased the detection rate but did not significantly reduce percentage with late stage disease. Morbidity was closely related to incidence bone involvement already present at diagnosis. About one fifth had reported suspicious symptoms for some considerable time before further investigation forthcoming. Almost half ‘benefitted’ by having...
Taking into account the practical issues, cost implications and theoretical evidence, Caroline Platt examines whether tap water should be used for cleansing all wounds
<h3>Aims</h3> Children and families should expect to receive NICE compliant care before after diagnosis of UTI independently where this is made. We aim highlight the challenges faced by different healthcare providers in management children with evaluating implementation key aspects 2007 guidance across primary secondary care. report on findings national multi-site health quality improvement partnership (HQIP) project. <h3>Methods</h3> Retrospective audit 900 consecutive <16 years based 4...
We present the case of a young boy with Dent’s disease, identified as having mutation in kidney-specific chloride-proton antiporter CLCN5 during investigation for nephrotic range proteinuria. He went on to develop growth hormone deficiency requiring treatment recombinant followed by an acute presentation hepato-renal failure and thrombotic occlusion both middle right hepatic veins consistent diagnosis Budd Chiari syndrome, which required prolonged period intensive care. have 3 reports...
Abstract Background The majority of cases Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting proximal tubular dysfunction. We present three members same family and one unrelated paediatric patient with insertion-deletion variant. identification these patients positive familial segregation led to re-classification this variant from unknown significance likely pathogenicity. Case presentation A 41 year old...
The following report describes the clinical journey of a 5-month-old male infant who presented with significant kidney injury diarrhoeal illness. His course was complicated by severe hypertension and number acute life-threatening events necessitating periods time on intensive care unit, where he received ventilatory support underwent renal replacement therapy treatment monoclonal antibody therapy. We take reader stepwise from presentation through to final diagnosis, discussing important...
Abstract Background The majority of cases Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion channel (ClC-5), resulting proximal tubular dysfunction. We present three members same family and one unrelated paediatric patient with insertion-deletion variant. identification these patients positive familial segregation led to re-classification this variant from unknown significance likely pathogenicity. Case presentation A 41 year old...