There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.
BackgroundNeck of femur fractures are associated with high mortality and have increased prevalence in dialysis patients. Delays in operating on dialysis patients can occur as a result of logistical or medical issues; it has previously been shown that delays on operating on neck of femur fractures in the general population results in increased mortality.MethodsMedical records of 27 dialysis patients admitted to a large district general hospital in the UK with a fractured neck of femur between January 2009 and January 2014 were analysed alongside records of 27 age and sex-matched non-dialysis patients. Fisher’s exact test and the unpaired t test were applied to data to explore outcomes. Odds ratio was also used to compare mortality between the dialysis and non-dialysis groups.ResultsThirty-day mortality amongst dialysis patients was 22 %, compared to 7 % in the non-dialysis cohort. One-year mortality amongst dialysis patients was 70 %, compared to 15 % in the non-dialysis cohort (odds ratio 13.7 (3.56–52.4, 95 % confidence interval; p = 0.0001)). Average length of survival in dialysis patients overall was 311 days; average length of survival if the patient was operated on within 48 h of admission was 450 days (192–708 days, 95 % confidence interval) and was 224 days (45–402, 95 % confidence interval) if operated on after more than 48 h of admission (p = 0.16).ConclusionsDialysis patients had higher post-operative mortality than the non-dialysis cohort. Odds ratio for death was significantly greater at one-year in the cohort of dialysis patients compared to the non-dialysis patients. Delay to operation amongst the dialysis patient cohort did not contribute significantly to mortality in this study. The higher rates of coronary artery disease, diabetes mellitus and malignancy may confound mortality amongst patients on dialysis who sustain a fractured neck of femur. Limitations of this study included small patient numbers, data from only one centre being used, and some missing data for certain patients.
BackgroundMitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters, initially managed for Crohn’s disease based upon clinical, imaging and pathological findings, were later found to have MNGIE. The cases provide novel clinicopathological insight, for two further reasons: both sisters remain ambulant and in employment in their late 20s and 30s; diagnosis in one sister was made after a suspected azathioprine-precipitated acute illness.Case presentationA 25-year-old female presented with diarrhoea, vomiting, abdominal pain, and bloating. Faecal calprotectin, colonic biopsies and magnetic resonance enterography were consistent with a diagnosis of Crohn’s disease. Azathioprine initiation preceded admission with a sore throat, headache, myalgia, and pyrexia. Withdrawal led to rapid clinical improvement. MRI brain revealed persistent, extensive white matter changes. Elevated plasma and urine thymidine and deoxyuridine, and genetic testing for TYMP variants, confirmed MNGIE. Testing of the patient’s sister, also diagnosed with Crohn’s disease, revealed identical variants. In this context, retrospective review of colonic biopsies identified histological findings suggestive of MNGIE.ConclusionsAzathioprine interference in nucleic acid metabolism may interact with the mitochondrial DNA depletion of MNGIE. Nucleotide supplementation, proposed for treatment by manipulating mitochondrial nucleoside pools, may require caution. The late onset and mild phenotype observed confirms presentation can occur later in life, and may reflect residual thymidine phosphorylase activity. Clinicians should consider measuring plasma thymidine levels in suspected Crohn’s disease to rule out MNGIE, particularly if white matter abnormalities are identified on neuroimaging.
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