The incidence of end-stage renal disease (ESRD) in England is increasing. There is a higher incidence of ESRD in British Indo-Asians than in the White population.To determine to what degree the increasing demand for renal replacement therapy in the UK is due to Indo-Asian patients. To study the presentation to renal services of Indo-Asian patients with ESRD and report any inequalities in initial treatment of Indo-Asian patients with ESRD compared to their White counterparts.Prospective, inception cohort study.Consecutive adult patients with ESRD who started renal replacement therapy between 1 April 2000 and 31 December 2001 in all 14 renal units serving an area from North Cheshire to South Cumbria, including Greater Manchester and Lancashire, were recruited and interviewed.Of the 578 patients, 9.5% were Indo-Asian. The annual acceptance rate for renal replacement therapy was 342 per million population in Indo-Asians, compared with 91 per million population in the White population ( p < 0.001). Indo-Asian patients with ESRD were younger (median age 51 years vs. 60 yrs, p = 0.006) and more socially deprived (81% vs. 36.5% in the 5th Carstairs quintile, p < 0.001). A greater proportion of Indo-Asian patients with ESRD presented late to specialist renal services (31% vs. 19%, p = 0.03). Once adjusting for their younger age, atherosclerotic renovascular disease and/or hypertensive nephropathy was more prevalent in Indo-Asian patients (OR 4.9; p = 0.03). There was no difference in the initial mode of maintenance dialysis or the perception of choice the patients felt they had, based on their ethnicity.There is a silent epidemic of ESRD in Indo-Asian patients in the North-West, possibly vascular in aetiology, in which specialist intervention is late. This suggests that Indo-Asian patients should be prioritized for early intervention strategies to reduce the burden of ESRD.
Abstract Chronic kidney disease (CKD) is a highly progressive disease. We studied the association between relative telomere length (RTL) and CKD progression and tested whether this association is modified by smoking and diabetes mellitus. RTL was measured by qPCR in two prospective cohort studies, the MMKD-Study (n = 166) and the CRISIS-Study (n = 889) with a median follow-up of 4.5 and 2.8 years, respectively. Progression was defined as doubling of baseline serum creatinine (MMKD-Study) and/or end stage renal disease (both studies). 59 and 105 of the patients from MMKD and CRISIS experienced a progression of CKD. Mean standardized pooled RTL was 0.74 ± 0.29. In the meta-analysis shorter RTL at baseline showed a borderline association with CKD progression (HR = 1.07 [95%CI 1.00–1.15]; p = 0.06). We observed an effect modification of RTL and CKD progression by smoking and diabetes (p-values of interaction p = 0.02 and p = 0.09, respectively). Each 0.1 unit shorter RTL was significantly associated with an increased hazard for CKD progression in active-smokers by 44% (HR = 1.44 [1.16–1.81]; p = 0.001) and in patients with diabetes mellitus by 16% (HR = 1.16 [1.01–1.34]; p = 0.03). Estimates were adjusted for baseline age, sex, proteinuria and GFR. This study in two independent cohorts reinforces that RTL is a marker and potentially a pathogenetic factor for CKD progression.
Objectives To assess genetic counselling by non‐geneticists and to improve clinical practice. Design National retrospective review of casenotes. Setting Antenatal, paediatric, medical, and surgical units. Sample 1293 genetic events were identified, involving potentially avoidable cases of Down's syndrome, neural tube defect, cystic fibrosis, beta thalassaemia major and late onset medullary carcinoma of the thyroid (multiple endocrine neoplasia). Notes were available for review in 888 (69%) of these cases. Outcomes Documented counselling, offers of relevant genetic screening and prenatal diagnosis. Results Clinical audit was frustrated by poor quality hospital records lacking evidence of counselling. Non‐geneticist clinicians concentrate on the management of disease, and may overlook the need for counselling and recording data which patients will later need for decisions about reproduction or disease prevention. Counselling, screening and prenatal diagnosis were sometimes impossible because of late booking in pregnancy, or because of delayed diagnosis of an earlier affected child with cystic fibrosis. There are marked regional inequalities of access to genetic services, particularly for minority ethnic groups with increased risks of thalassaemia. Although patients were selected for this enquiry because they had known high risks of genetic disorders, on average less than half were referred to medical geneticists. General recommendations relevant for improvement of care for patients and families with medical genetic needs and those specific for each disorder are given. Conclusions Assessment of the quality of genetic care becomes increasingly important as genetic counselling spreads beyond the narrow confines of specialist genetic services. Even though the events studied in this enquiry largely occurred between 1991 and 1995, there is little reason to believe that clinicians in general have become markedly better trained in medical genetics. The General Medical Council and Medical Royal Colleges should urgently consider the need for a national policy for improving undergraduate and postgraduate medical, nursing and midwifery education in genetics. Commissioners of clinical services should require that genetic management be at least as well‐documented as surgical operations, drug records and informed consent, perhaps by using a nationally agreed pro‐forma for prenatal diagnosis. Regular audit of counselling provided by non‐geneticists is necessary to confirm that clinical improvements are occurring and standards are being met. The Confidential Enquiry provides data for a systematic approach to clinical governance of genetics in all specialities. This sets the scene for multi‐speciality NHS genetic services capable of giving patients greater consistency both in access and in quality.
The assessment of antenatal care of women at increased risk of having a baby with Down's syndrome, neural tube defect, thalassaemia, and cystic fibrosis that was undertaken by the national confidential inquiry into counselling by non-geneticists revealed several problems, including poor record keeping.1 These problems were reported to the Department of Health in five specific papers and four summary, peer reviewed papers and on the internet.2 The Royal College of Obstetricians and Gynaecologists then issued guidelines recommending that antenatal units have written policies for screening for Down's syndrome and for neural tube defect and that haemoglobinopathy screening be offered to all patients whose ethnic origin makes them susceptible.3 There is less consensus on screening for cystic fibrosis (UK National Screening Committee, joint meeting of the antenatal and child health screening subgroups, cystic fibrosis workshop, London, 2 June 1999). We assessed the response among antenatal staff to the outcomes of …
To audit the care that had been provided to couples before the birth of a child with cystic fibrosis where a sibling had been previously diagnosed.
DESIGN
Retrospective review of case notes.
SAMPLE
Families where at least one affected child had been born between 1 January 1991 and 30 June 1995 and the diagnosis in the first child was made before the second affected pregnancy reached 20 weeks. The combination of information on these families with data from the prenatal diagnosis register allowed the reconstruction of a cohort of pregnancies in women with a previous affected child.
MAIN RESULTS
Forty six eligible families with a second affected child were identified. Details from the paediatrician who had diagnosed the first affected child were obtained in 43 cases: all 43 couples were offered genetic counselling, but where provided by a paediatrician this was difficult to assess as no couple was sent a summary letter. Details were obtained from the obstetrician in the subsequent affected pregnancy in 42 cases: prenatal diagnosis was not offered in 10 (24%), offered and declined in 24 (57%), offered and accepted but termination declined in eight (19%). In the overall cohort of at risk pregnancies, the estimated rate of prenatal diagnosis offer was 97%, prenatal diagnosis uptake 86%, false negative prenatal diagnosis rate 0%, and uptake of termination 95%.
CONCLUSIONS
(1) Parental choice was an important determinant of second affected births. (2) Despite widespread availability, prenatal diagnosis was not offered in an estimated 3% of at risk pregnancies. (3) There were shortcomings in counselling documentation, in particular failure to send a summary letter to counselled couples.
Key messages
At the time of diagnosis of an affected child, the paediatrician should provide general education literature for the parents to inform them about cystic fibrosis symptom management, recurrence risk, prenatal diagnosis options, and the need for early booking in a subsequent pregnancy Prompt counselling and prenatal diagnosis should be offered in the first trimester of an at risk pregnancy whenever possible Parental choice was an important determinant of second affected cystic fibrosis births within families where a previous child had been diagnosed
Higher phosphate is associated with mortality in dialysis patients but few prospective studies assess this in nondialysis patients managed in an outpatient nephrology clinic. This prospective longitudinal study examined whether phosphate level was associated with death in a referred population.Patients (1203) of nondialysis chronic kidney disease (CKD) in the Chronic Renal Insufficiency Standards Implementation Study were assessed. Survival analyses were performed for quartiles of baseline phosphate relative to GFR, 12-month time-averaged phosphate, and baseline phosphate according to published phosphate targets.Mean (SD) eGFR was 32 (15) ml/min per 1.73 m(2), age 64 (14) years, and phosphate 1.2 (0.30) mmol/L. Cox multivariate adjusted regression in CKD stages 3 to 4 patients showed an increased risk of all-cause and cardiovascular mortality in the highest quartile compared with that in the lowest quartile of phosphate. No association was found in CKD stage 5 patients. Patients who had values above recommended targets for phosphate control had increased risk of all-cause and cardiovascular death compared with patients below target. The highest quartile compared with the lowest quartile of 12-month time-averaged phosphate was associated with an increased risk of mortality.In CKD stages 3 to 4 patients, higher phosphate was associated with a stepwise increase in mortality. As phosphate levels below published targets (as opposed to within them) are associated with better survival, guidelines for phosphate in nondialysis CKD patients should be re-examined. Intervention trials are required to determine whether lowering phosphate will improve survival.
Vascular stiffness is associated with increased cardiovascular risk. This study aimed to identify factors associated with vascular stiffness in a cohort of chronic kidney disease (CKD) patients.The Chronic Renal Insufficiency Standards Implementation Study is a prospective epidemiological study of CKD patients not on dialysis, who are managed in a clinic setting. Phenotypic parameters were collected annually, and vascular stiffness was assessed using augmentation index (AI). Cross-sectional analysis was performed across quintiles of AI to evaluate factors associated with vascular stiffness.Mean patient age was 66.1 +/- 14.1 years and estimated glomerular filtration rate (eGFR) was 31.2 +/- 5.7 ml/min. Corrected calcium was 2.26 +/- 0.2 SD mmol/l, phosphate 1.2 +/- 0.4 SD mmol/l and intact parathyroid hormone 94 +/- 96 SD pg/ml; 18.3% of patients had cardiovascular disease. Increased age and systolic blood pressure were associated with increased AI (all p < 0.001). No statistical association was present between AI and eGFR, intact parathyroid hormone, phosphate or protein excretion.This study identified blood pressure as a potentially modifiable risk factor associated with AI, whereas eGFR was not associated with increased AI in a population of CKD stage 3-5 patients. Further knowledge of factors which influence progression of vascular stiffness will be important in risk quantification and management.
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