Chris Kingswood

Chris Kingswood
Brighton and Sussex University Hospitals NHS Trust | BSUH · Sussex Kidney Unit

MBBS MSc FRCP

About

124
Publications
9,042
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6,355
Citations
Additional affiliations
May 1990 - present
Brighton and Sussex University Hospitals NHS Trust
Position
  • Honorary Consultant nephrologist

Publications

Publications (124)
Preprint
Full-text available
Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disorder caused by pathogenic mutations in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existe...
Article
Full-text available
Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratif...
Article
Full-text available
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterized by benign tumors in multiple organs, including the skin, brain, kidneys, and lungs and occasional malignant tumors. Hamartomas in the brain, retina, and sometimes other organs also occur (1–3). The estimated prevalence is 1:600–1:10,000 live births...
Article
Full-text available
Background: Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and...
Article
Full-text available
Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwid...
Article
Full-text available
Background: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis...
Article
Background Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart, and skin. Cutaneous lesions are prevalent manifestations in TSC, occurring in up to 90% of patients. Oral mammalian target of rapamycin inhibitors, such as everolimus, are believed to be effective f...
Article
Full-text available
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural histo...
Article
Full-text available
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs) and for subependymal giant astrocytoma (SEGA) in both adults and children, based on data from the...
Article
Renal-related disease is the most common cause of tuberous sclerosis complex (TSC)-related death in adults, and renal angiomyolipomas can lead to complications that include chronic kidney disease (CKD) and hemorrhage. International TSC guidelines recommend mammalian target of rapamycin (mTOR) inhibitors as first-line therapy for management of asymp...
Article
Background: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder characterized by the development of diverse clinical manifestations. The complexity of this disease is likely to result in substantial challenges and costs in disease management throughout the patient's lifetime. This retrospective database study aims to quantify healt...
Article
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the...
Article
Full-text available
Renal angiomyolipomata associated with tuberous sclerosis complex are often bilateral, multiple and progressive. They cause significant morbidity and mortality in older children and adults. Surveillance and pre-emptive treatment reduce this risk. Recent research suggests treatment with mammalian target of rapamycin inhibitors is better at preventin...
Article
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patients with TSC susceptible to the growth of non-malignant tumours in multiple organs. Previously, surgery was the main therapeutic option for...
Article
Full-text available
Background: Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder characterised by the development of benign growths and diverse clinical manifestations, varying in severity, age at onset and with high clinical burden. Aims: This longitudinal study aims to describe the broad spectrum of clinical manifestation profiles in a large, r...
Article
Aim: The purpose is to determine the exposure-response relationship of everolimus in patients with angiomyolipoma from the EXIST-2 trial and to analyze the correlation between exposure and plasma concentrations of angiogenic biomarkers in these patients. Methods: 118 patients with angiomyolipoma associated with tuberous sclerosis complex (TSC) o...
Article
Introduction La sclérose tubéreuse de Bourneville (STB) est une maladie génétique rare qui se manifeste par le développement de tumeurs bénignes dans de nombreux organes. La cohorte TOSCA est la plus grande cohorte qui permettra de décrire son histoire naturelle : les manifestations cliniques, leurs évolutions, l’efficacité des traitements. Nous pr...
Article
Full-text available
Mammalian target of rapamycin (mTOR) inhibitors are recommended as first-line treatment of renal angiomyolipoma associated with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (sporadic LAM), but follow-up is limited. Longer term efficacy and tolerability data from a Phase 3, double-blind, placebo-controlled trial are presente...
Article
Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder associated with an enormous range of physical and neuropsychiatric manifestations. Over the last few decades' significant progress has been made in understanding the molecular biology of the disorder, and TSC is now one of the first genetic conditions with molecularly targeted trea...
Article
La STB est une maladie genetique rare qui affecte de nombreux organes. TuberOus SClerosis registry to increase disease Awareness (TOSCA) est une cohorte internationale qui a pour but de decrire les manifestations de la STB, dont la lymphangioleiomyomatose (LAM), d’identifier les manifestations rares et comorbidites, de recueillir les traitements et...
Article
Full-text available
Background: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain mo...
Conference Paper
Introduction and Aims: According to classical nephrology practice, pure microscopic hematuria [MH] in early life is not considered a serious problem and up to date diagnostic studies are not always carried out. Family urine studies to confirm or rule out a familial disease should always be carried out early and if positive, molecular genetics shoul...
Article
Tuberous sclerosis complex (TSC) is characterized by benign tumours in multiple organs, including the brain, kidneys, skin, lungs and heart. Our objective was to evaluate everolimus, an mTOR inhibitor, in the treatment of angiomyolipoma in patients with subependymal giant cell astrocytoma (SEGA) associated with TSC. EXamining everolimus In a Study...
Article
Full-text available
Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable a...
Article
Background: Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis. The insidious growth of these tumours predisposes patients to serious complications including retroperitoneal haemorr...
Article
Abstract BACKGROUND: Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of rapamycin (mTOR), and are common in patients with tuberous sclerosis complex and sporadic lymphangioleiomyomatosis. The insidious growth of these tumours predisposes patients to serious complications including retroperitoneal...
Article
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(Named collaborator on this multi-centre study)
Article
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PURPOSE Renal angiomyolipomas are a frequent manifestation of tuberous sclerosis and sporadic lymphangioleiomyomatosis. These disorders are associated with mutations of TSC1 or TSC2 that lead to over-activation of mammalian target of rapamycin complex 1 (mTORC1), suggesting an opportunity for targeted therapy using mTORC1 inhibitors. This study inv...
Article
Full-text available
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the growth of benign tumours in multiple organs, including the brain and kidneys, alongside intellectual disability and seizures. Identification of a causative mutation in TSC1 or TSC2 is important for accurate genetic counselling in affected families, but it is not always cle...
Article
Full-text available
Lymphangioleiomyomatosis (LAM) is a rare lung disease, which occurs sporadically or in association with the genetic disease tuberous sclerosis complex (TSC) 1, 2. Sporadic LAM affects ∼1 in 400,000 adult females; in TSC, LAM occurs in 30–40% of adult females 3, 4 and exceptionally in males and children 5, 6. Patients with LAM usually develop progr...
Article
To examine the presentation, management and outcomes of patients with renal angiomyolipoma (AML) over a period of 10 years, at St George's Hospital, London, UK. We assessed retrospectively 102 patients (median follow-up 4 years) at our centre; 70 had tuberous sclerosis complex (TSC; median tumour size 3.5 cm) and the other 32 were sporadic (median...
Article
Full-text available
To the Editor: Tuberous sclerosis is an autosomal dominant disorder characterized by hamartomatous growths in many organs and caused by inherited mutations of the TSC1 or TSC2 gene. Acquired (somatic) mutations of either gene occur within pathologic cells in patients with sporadic lymphangioleiomyomatosis. Renal angiomyolipomas occur in both disord...
Article
Full-text available
To study the radiological characteristics of renal masses in individuals with tuberous sclerosis complex (TSC) using serial CT, and to examine how renal cell carcinoma (RCC) may be differentiated from indeterminate cysts or masses. This was a retrospective study of 12 cases of TSC in which dedicated renal CT followed after US had demonstrated cysti...
Article
Renal angiomyolipomata can exist as an imaging curiosity or represent a life-threatening condition. There are likely over 10 million people world-wide who have a renal angiomyolipomata and approximately one tenth of these people also have tuberous sclerosis complex. The optimum treatment of angiomyolipomata is focused on sparing renal tissue and ha...
Article
To report anterior ischemic optic neuropathy associated with systemic hypotension in a patient undergoing continuous ambulatory peritoneal dialysis. Case report. A 58-year-old man undergoing continuous ambulatory peritoneal dialysis developed painless blurred vision in both eyes and bilateral optic disk swelling with an altitudinal field defect in...
Article
Full-text available
Tuberous sclerosis (TSC) is a multisystem disorder encompassing a wide spectrum of pathological renal lesions. Renal involvement is commonly asymptomatic but can result in significant morbidity, and renal failure has been reported. The risk of renal failure in patients with TSC in the UK has not been defined. A survey of the 170 members of the Euro...
Article
Abnormalities (reduction in/absence of) in diurnal bp rhythm are much more commonly seen in patients with chronic uremia than in patients with primary hypertension or in normal subjects. Target-organ damage is greater in these patients. However, the extent to which these diurnal bp rhythm changes are consistent or variable is untested. We retrospec...
Article
The physico-chemical properties of cefpirome (low protein binding, high water solubility and low molecular weight) suggest that it may be lost readily from the extracorporeal circulation of intensive care unit patients during continuous renal replacement therapy. In order to make informed dosage recommendations for patients receiving artificial ren...
Article
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Hypertensive non-diabetic patients who lack the normal nocturnal decline in blood pressure ('non-dippers') have an increased incidence of cardiovascular complications. Poor blood pressure control is known to exacerbate the decline in glomerular filtration rate in patients with diabetic nephropathy. The aim of this study was to assess the contributi...
Article
A case report of a 50-year-old woman who has been treated with peritoneal dialysis for 9 years, with a short period off dialysis following transplantation. The patient had long-standing secondary hyperparathyroidism and had declined parathyroidectomy, she had had two episodes of peritonitis in the preceding eight years. She presented with blood-sta...
Article
Full-text available
Ambulatory blood pressure recordings have been shown to correlate better with target organ damage than have isolated clinic blood pressure readings. There have been some small studies demonstrating that abnormal blood pressure diurnal rhythm is common in uraemia and in patients on renal replacement therapy. Abnormal blood pressure diurnal rhythm it...