LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 58

Search options

  1. Article ; Online: Comment on a recent article titled 'Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia'.

    Clissold, Rhian / Bingham, Coralie / Hattersley, Andrew

    Journal of diabetes investigation

    2023  

    Language English
    Publishing date 2023-12-23
    Publishing country Japan
    Document type Letter
    ZDB-ID 2625840-7
    ISSN 2040-1124 ; 2040-1116
    ISSN (online) 2040-1124
    ISSN 2040-1116
    DOI 10.1111/jdi.14137
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: A case of acute tubulointerstitial nephritis following administration of the Oxford-AstraZeneca COVID-19 vaccine: a case report.

    Williams, Samuel B M / Holwill, Stephen D J / Clissold, Rhian L / Bingham, Coralie

    BMC nephrology

    2023  Volume 24, Issue 1, Page(s) 52

    Abstract: 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 ... ...

    Abstract 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. She had an acute kidney injury with a creatinine of 484 umol/L. She was on no regular medications and denied taking any over-the-counter or alternative medicines. She had received her first dose of the Oxford-AstraZeneca vaccine on 23rd March 2021 and her second dose on 20th May 2021. A renal biopsy was performed the following day. The 19 glomeruli appeared normal to light microscopy but the tubulointerstitial compartment contained a dense inflammatory infiltrate including many eosinophils. There was widespread acute tubular injury with tubulitis, but no established or longstanding atrophy. A diagnosis was made of an acute tubulointerstitial nephritis. She was commenced on oral prednisolone and her renal function improved. She did not require renal replacement therapy at any time.
    Conclusions: To our knowledge, this was the first described case of acute tubulointerstitial nephritis following administration of the Oxford-AstraZeneca COVID-19 vaccine, although a number of cases have emerged more recently. In our case the patient was very fit and well, had no previous past medical history and had not taken any recent prescribed, over-the-counter or alternative medications. The absence of these provoking factors in our case makes the vaccine the most likely explanation for the development of tubulointerstitial nephritis although the pathophysiology behind this remains unknown. Given the unprecedented number of vaccinations being delivered around the world, nephrologists should be aware of this possible link although more research into the topic is required.
    MeSH term(s) Humans ; Female ; Middle Aged ; COVID-19 Vaccines/adverse effects ; ChAdOx1 nCoV-19 ; COVID-19 ; Nephritis, Interstitial/chemically induced ; Nephritis, Interstitial/diagnosis ; Vaccination
    Chemical Substances COVID-19 Vaccines ; ChAdOx1 nCoV-19 (B5S3K2V0G8)
    Language English
    Publishing date 2023-03-14
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2041348-8
    ISSN 1471-2369 ; 1471-2369
    ISSN (online) 1471-2369
    ISSN 1471-2369
    DOI 10.1186/s12882-023-03089-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article: Familial interstitial nephritis: 42 years from case series to genetic diagnosis.

    Clissold, Rhian L / Bingham, Coralie / Shaw-Smith, Charles

    Clinical nephrology

    2019  Volume 91, Issue 6, Page(s) 386–388

    Language English
    Publishing date 2019-01-28
    Publishing country Germany
    Document type Letter
    ZDB-ID 185101-9
    ISSN 0301-0430
    ISSN 0301-0430
    DOI 10.5414/CN109654
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article: Remission of Membranous Nephropathy after Treatment of Localised Prostate Cancer

    Adlington, Daniel / Moore, Jason / Bingham, Coralie

    Case Reports in Nephrology and Dialysis

    2019  Volume 9, Issue 2, Page(s) 79–84

    Abstract: Membranous nephropathy is a cause of the nephrotic syndrome in adults; it can be a primary or secondary process. Secondary causes include solid organ and lymphoid malignancies. Prostate cancer has been reported as the second most common causative ... ...

    Institution Royal Devon and Exeter Hospital, Exeter, United Kingdom
    Abstract Membranous nephropathy is a cause of the nephrotic syndrome in adults; it can be a primary or secondary process. Secondary causes include solid organ and lymphoid malignancies. Prostate cancer has been reported as the second most common causative malignancy. Remission of membranous nephropathy following treatment of metastatic prostate cancer is well established. In this case, we describe a patient with localised prostate cancer who developed severe nephrotic syndrome (urine protein creatinine ratio 1,616 mg/mmol and serum albumin 17 g/L) secondary to membranous nephropathy. The prostate cancer was deemed of low risk and so was being managed with active surveillance rather than medical treatment. Given the severity of the nephrotic syndrome a trial of androgen deprivation therapy with bicalutamide was agreed between the nephrology and urology teams. Full remission of the nephrotic syndrome was observed within 6 months of commencement of treatment (normalisation of serum albumin, non-nephrotic range urine protein creatinine ratio and resolution of oedema). The bicalutamide has been continued indefinitely.
    Keywords Prostate cancer ; Membranous nephropathy ; Androgen deprivation
    Language English
    Publishing date 2019-06-06
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Case Report ; This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC).
    ZDB-ID 2809879-1
    ISSN 2296-9705 ; 2296-9705
    ISSN (online) 2296-9705
    ISSN 2296-9705
    DOI 10.1159/000500948
    Database Karger publisher's database

    More links

    Kategorien

  5. Article: Prevention of recurrence of atypical hemolytic uremic syndrome post renal transplant with the use of higher-dose eculizumab
.

    Riddell, Amy / Goodship, Tim / Bingham, Coralie

    Clinical nephrology

    2016  Volume 86, Issue 10, Page(s) 200–202

    Abstract: Eculizumab, a terminal complement inhibitor, has recently been used successfully to both prevent and treat the recurrence of atypical hemolytic uremic syndrome (aHUS) post renal transplantation. We describe a case that highlights the need to monitor the ... ...

    Abstract Eculizumab, a terminal complement inhibitor, has recently been used successfully to both prevent and treat the recurrence of atypical hemolytic uremic syndrome (aHUS) post renal transplantation. We describe a case that highlights the need to monitor the effects of eculizumab on the complement system and in this case alter the dosage. Despite taking the standard recommended dose of eculizumab for an adult, this aHUS patient developed a low-grade thrombotic microangiopathy on biopsy within months of renal transplantation. Complement assays (trough CH50) showed small amounts of residual terminal pathway activity suggesting inadequate complement blockade on 1,200 mg eculizumab every 2 weeks. Following an increase in the dose of eculizumab to 1,500 mg every 2 weeks, lactate dehydrogenase (LDH), proteinuria, and creatinine decreased, and CH50 assay showed 0%. This case emphasizes the need to monitor clinical parameters and complement activity to ensure that adequate therapeutic blockade is achieved.
.
    MeSH term(s) Adult ; Antibodies, Monoclonal, Humanized/therapeutic use ; Atypical Hemolytic Uremic Syndrome/etiology ; Atypical Hemolytic Uremic Syndrome/prevention & control ; Complement C3/antagonists & inhibitors ; Complement C5/antagonists & inhibitors ; Complement System Proteins ; Drug Monitoring/methods ; Humans ; Kidney Transplantation/adverse effects ; Male ; Recurrence
    Chemical Substances Antibodies, Monoclonal, Humanized ; Complement C3 ; Complement C5 ; Complement System Proteins (9007-36-7) ; eculizumab (A3ULP0F556)
    Language English
    Publishing date 2016-10
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 185101-9
    ISSN 0301-0430
    ISSN 0301-0430
    DOI 10.5414/CN108808
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.

    Wong, Katie / Pitcher, David / Braddon, Fiona / Downward, Lewis / Steenkamp, Retha / Annear, Nicholas / Barratt, Jonathan / Bingham, Coralie / Chrysochou, Constantina / Coward, Richard J / Game, David / Griffin, Sian / Hall, Matt / Johnson, Sally / Kanigicherla, Durga / Karet Frankl, Fiona / Kavanagh, David / Kerecuk, Larissa / Maher, Eamonn R /
    Moochhala, Shabbir / Pinney, Jenny / Sayer, John A / Simms, Roslyn / Sinha, Smeeta / Srivastava, Shalabh / Tam, Frederick W K / Turner, Andrew Neil / Walsh, Stephen B / Waters, Aoife / Wilson, Patricia / Wong, Edwin / Taylor, Christopher Mark / Nitsch, Dorothea / Saleem, Moin / Bockenhauer, Detlef / Bramham, Kate / Gale, Daniel P

    Lancet (London, England)

    2024  Volume 403, Issue 10433, Page(s) 1279–1289

    Abstract: Background: Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers ... ...

    Abstract Background: Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.
    Methods: People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m
    Findings: Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p<0·0001), but better survival rates (standardised mortality ratio 0·42 [95% CI 0·32-0·52]; p<0·0001). Median age at kidney failure, median age at death, time from start of dialysis to death, time from diagnosis to eGFR thresholds, and therapeutic trial window all varied substantially between rare diseases.
    Interpretation: Patients with rare kidney diseases differ from the general population of individuals with chronic kidney disease: they have higher 5-year rates of kidney failure but higher survival than other patients with chronic kidney disease stages 3-5, and so are over-represented in the cohort of patients requiring kidney replacement therapy. Addressing unmet therapeutic need for patients with rare kidney diseases could have a large beneficial effect on long-term kidney replacement therapy demand.
    Funding: RaDaR is funded by the Medical Research Council, Kidney Research UK, Kidney Care UK, and the Polycystic Kidney Disease Charity.
    MeSH term(s) Humans ; Glomerular Filtration Rate ; Kidney ; Kidney Failure, Chronic/epidemiology ; Kidney Failure, Chronic/therapy ; Kidney Failure, Chronic/etiology ; Radar ; Rare Diseases ; Registries ; Renal Insufficiency/epidemiology ; Renal Insufficiency, Chronic/epidemiology ; Renal Insufficiency, Chronic/therapy ; Renal Insufficiency, Chronic/complications ; United Kingdom/epidemiology ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over
    Language English
    Publishing date 2024-03-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0023-7507 ; 0140-6736
    ISSN (online) 1474-547X
    ISSN 0023-7507 ; 0140-6736
    DOI 10.1016/S0140-6736(23)02843-X
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (

    Clissold, Rhian L / Harries, Lorna W / Ellard, Sian / Bingham, Coralie / Hattersley, Andrew T

    Diabetes care

    2017  Volume 41, Issue 1, Page(s) e7

    MeSH term(s) Adult ; Diabetes Mellitus, Type 2 ; Genetic Association Studies ; Genotype ; Hepatocyte Nuclear Factor 1-beta/genetics ; Humans ; Mutation ; Phenotype ; Prognosis
    Chemical Substances HNF1B protein, human ; Hepatocyte Nuclear Factor 1-beta (138674-15-4)
    Language English
    Publishing date 2017-12-20
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 441231-x
    ISSN 1935-5548 ; 0149-5992
    ISSN (online) 1935-5548
    ISSN 0149-5992
    DOI 10.2337/dc17-1672
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article: Late presentation of toxoplasmosis in renal transplant recipients.

    Clissold, Rhian / Bingham, Coralie

    NDT plus

    2010  Volume 3, Issue 5, Page(s) 480–482

    Abstract: Toxoplasma gondii is a rare cause of infection in renal transplant recipients and usually occurs within 3 months of transplantation, this being the period of maximum immunosuppression. We report two cases of toxoplasmosis presenting several years after ... ...

    Abstract Toxoplasma gondii is a rare cause of infection in renal transplant recipients and usually occurs within 3 months of transplantation, this being the period of maximum immunosuppression. We report two cases of toxoplasmosis presenting several years after transplantation. One patient developed Toxoplasma retinitis 4 years after renal transplantation and lost peripheral vision in his affected eye. Another developed cerebral toxoplasmosis 6 years following his second renal transplant but did not survive despite treatment. These cases highlight the need for a high index of suspicion of toxoplasmosis as a potential diagnosis even during the later stages of the post-transplant period as survival is poor without early recognition and treatment.
    Language English
    Publishing date 2010-06-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2410383-4
    ISSN 1753-0784
    ISSN 1753-0784
    DOI 10.1093/ndtplus/sfq113
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

    Clissold, Rhian / Shields, Beverley / Ellard, Sian / Hattersley, Andrew / Bingham, Coralie

    Nephron

    2015  Volume 130, Issue 2, Page(s) 134–140

    Abstract: Background/aims: Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate ... ...

    Abstract Background/aims: Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predictive value (NPV) of 99%. We aimed at testing the clinical utility of this score in a large number of referrals for HNF1B genetic testing to the UK diagnostic testing service for the HNF1B gene.
    Methods: An HNF1B score was assigned for 686 UK referrals for HNF1B genetic testing using clinical information available at referral. The performance of the score was evaluated by receiver-operating characteristic curve analysis. The relative discriminatory ability of different clinical features for making a genetic diagnosis of HNF1B-related disease were estimated in the UK dataset alone and pooled with French data.
    Results: The HNF1B score discriminated between patients with and without a mutation reasonably well with an area under the curve of 0.72. Applying the suggested cut-off score of ≥8 gave a NPV of 85%. In a pooled analysis, antenatal renal abnormalities, renal hyperechogenicity and cysts were discriminatory in children, whereas renal hypoplasia and cysts were discriminatory in adults. Pancreatic abnormalities were discriminatory in both, whereas other extra-renal characteristics had a large effect size only in adults.
    Conclusion: The HNF1B score was discriminatory for HNF1B mutations in a large cohort of individuals tested in a single UK centre. The lower NPV (85 vs. 99%) reduces its clinical utility in selecting patients for HNF1B genetic testing, although validation in a prospective cohort is required.
    MeSH term(s) Cohort Studies ; Genetic Testing ; Hepatocyte Nuclear Factor 1-beta/genetics ; Heterozygote ; Humans ; Mutation
    Chemical Substances HNF1B protein, human ; Hepatocyte Nuclear Factor 1-beta (138674-15-4)
    Language English
    Publishing date 2015-05-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207121-6
    ISSN 2235-3186 ; 1423-0186 ; 1660-8151 ; 0028-2766
    ISSN (online) 2235-3186 ; 1423-0186
    ISSN 1660-8151 ; 0028-2766
    DOI 10.1159/000398819
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

    Lemoine, Hugo / Raud, Loann / Foulquier, François / Sayer, John A / Lambert, Baptiste / Olinger, Eric / Lefèvre, Siriane / Knebelmann, Bertrand / Harris, Peter C / Trouvé, Pascal / Desprès, Aurore / Duneau, Gabrielle / Matignon, Marie / Poyet, Anais / Jourde-Chiche, Noémie / Guerrot, Dominique / Lemoine, Sandrine / Seret, Guillaume / Barroso-Gil, Miguel /
    Bingham, Coralie / Gilbert, Rodney / Le Meur, Yannick / Audrézet, Marie-Pierre / Cornec-Le Gall, Emilie

    American journal of human genetics

    2022  Volume 109, Issue 8, Page(s) 1484–1499

    Abstract: Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are the two major genes ... ...

    Abstract Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are characterized by the development of kidney cysts and progressive kidney function decline. PKD1 and PKD2, encoding polycystin (PC)1 and 2, are the two major genes associated with ADPKD; other genes include IFT140, GANAB, DNAJB11, and ALG9. Genetic testing remains inconclusive in ∼7% of the families. We performed whole-exome sequencing in a large multiplex genetically unresolved (GUR) family affected by ADPKD-like symptoms and identified a monoallelic frameshift variant (c.703_704delCA) in ALG5. ALG5 encodes an endoplasmic-reticulum-resident enzyme required for addition of glucose molecules to the assembling N-glycan precursors. To identify additional families, we screened a cohort of 1,213 families with ADPKD-like and/or autosomal-dominant tubulointerstitial kidney diseases (ADTKD), GUR (n = 137) or naive to genetic testing (n = 1,076), by targeted massively parallel sequencing, and we accessed Genomics England 100,000 Genomes Project data. Four additional families with pathogenic variants in ALG5 were identified. Clinical presentation was consistent in the 23 affected members, with non-enlarged cystic kidneys and few or no liver cysts; 8 subjects reached end-stage kidney disease from 62 to 91 years of age. We demonstrate that ALG5 haploinsufficiency is sufficient to alter the synthesis of the N-glycan chain in renal epithelial cells. We also show that ALG5 is required for PC1 maturation and membrane and ciliary localization and that heterozygous loss of ALG5 affects PC1 maturation. Overall, our results indicate that monoallelic variants of ALG5 lead to a disorder of the ADPKD-spectrum characterized by multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline.
    MeSH term(s) Cysts/genetics ; Fibrosis ; Humans ; Kidney/pathology ; Mutation/genetics ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/pathology ; Exome Sequencing
    Language English
    Publishing date 2022-07-26
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2022.06.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top