Mutations in CYP24A1, encoding the vitamin D 24-hydroxlase enzyme, are known to cause a range of clinical phenotypes and presentations including idiopathic infantile hypercalcaemia and adult-onset nephrocalcinosis and nephrolithiasis. In the context of raised or borderline high serum calcium levels, suppressed PTH and persistently elevated 1,25 dihydroxy vitamin D levels, this rare condition should be considered. We present a case where this biochemical pattern was seen and mutations in CYP24A1 were confirmed. We were able to successfully control serum calcium levels and reduce urinary calcium excretion by treatment with low-dose fluconazole, which inhibits vitamin D-synthesizing enzymes (including 25-hydroxylases and 1-α-hydroxylase) thereby reducing levels of 1,25–dihydroxy vitamin D.

We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acute Escherichia coli O157:H7 infection. She progressed to established renal failure and received a deceased donor kidney transplant. Shiga toxin–associated HUS (STEC-HUS) does not recur following renal transplantation, but unexpectedly this patient did experience rapid and severe HUS recurrence. She responded to treatment with the terminal complement inhibitor eculizumab and subsequent genetic analysis revealed a rare variant in a complement gene. This highlights the importance of genetic analysis in patients with STEC-HUS prior to renal transplantation so that management can be individualized.

A 45-year-old man recently came to our attention, who had originally presented with renal colic at the age of 10 years. He subsequently re-presented with a further episode of renal colic and symptomatic hypercalcemia at the age of 45 years, which resulted in an intensive and invasive search for an occult malignancy. A biochemical phenotype of hypercalcemia (serum calcium 2.81 mmol/l, serum phosphate 1.15 mmol/l), suppressed parathyroid hormone (14 ng/l), and hypercalciuria (urinary calcium 8.8 mmol/24 h) was noted. There was no history of vitamin D supplementation. Total vitamin D levels were normal (117 nmol/l). Renal imaging revealed bilateral medullary nephrocalcinosis (Figures 1 and 2). A family history also identified his sister as a renal stone former. His parents had no clinical phenotype. On this basis, an inherited cause of hypercalciuric renal stones seemed much more likely than a malignancy. We confirmed a homozygous E143del mutation, segregating from each parent, who were not known to be consanguineous, in CYP24A1. Although mutations in CYP24A1 may be rare, there is growing evidence that phenotypes of mutations in this gene may include adult presentations of renal stone disease and nephrocalcinosis. A trial of ketoconazole is indicated in order to control the hypercalcemia. Consideration of CYP24A1 mutations as a cause of renal stone disease should be given and a familial pattern of stone formation should be looked for. Figure 1 | Renal ultrasound scan demonstrating medullary nephrocalcinosis.Figure 2 | Computed tomography scan showing bilateral nephrocalcinosis.

BackgroundMortality in end stage renal disease (ESRD) is higher than many malignancies. There is no data about the optimal way to present information about projected survival to patients with ESRD. In other areas, graphs have been shown to be more easily understood than narrative. We examined patient comprehension and perspectives on graphs in communicating projected survival in chronic kidney disease (CKD).MethodsOne hundred seventy-seven patients with CKD were shown 4 different graphs presenting post transplantation survival data. Patients were asked to interpret a Kaplan Meier curve, pie chart, histogram and pictograph and answer a multi-choice question to determine understanding.ResultsWe measured interpretation, usefulness and preference for the graphs. Most patients correctly interpreted the graphs. There was asignificant difference in the percentage of correct answers when comparing different graph types (p = 0.0439). The pictograph was correctly interpreted by 81% of participants, the histogram by 79%, pie chart by 77% and Kaplan Meier by 69%. Correct interpretation of the histogram was associated with educational level (p = 0.008) and inversely associated with age > 65 (p = 0.008). Of those who interpreted all four graphs correctly, there was an association with employment (p = 0.001) and New Zealand European ethnicity (p = 0.002).87% of patients found the graphs useful. The pie chart was the most preferred graph (p 0.002).The readability of the graphs may have been improved with an alternative colour choice, especially in the setting of visual impairment.ConclusionVisual aids, can be beneficial adjuncts to discussing survival in CKD.

Introduction Enhanced recovery after surgery (ERAS) is well established in many specialties but has not been widely adopted in renal transplantation. The aim of this survey was to understand current national practices and sentiment concerning ERAS for renal transplant recipients in the UK. Methodology A national web-based survey was sent to consultant surgeons at all 23 UK adult renal transplant units. Completed questionnaires were collected between May and July 2020. Data were analysed according to individual responses and grouped according to the existence of formal ERAS pathways within units. Results All transplant units were represented in this survey. Three units had a formal ERAS pathway for all recipients. Of the remaining units, 65.9% considered implementing an ERAS pathway in the near future. The most commonly perceived barrier to ERAS implementation was ‘embedded culture within transplant units’ (54.8% of respondents). A fifth of respondents insert surgical drains selectively and 11.7% routinely discontinue patient-controlled analgesia on postoperative day 1. Most respondents routinely remove urinary catheters on day 5 (70%) and ureteric stents 4–6 weeks post-transplantation (81.7%). Median length of stay for deceased donor kidney transplant recipients was lower in units with ERAS programmes (5–7 days versus 8–10 days, respectively). The main cited barriers for discharge were ‘suboptimal fluid balance’ and ‘requirement of treatment for rejection’. Conclusions Despite slow uptake of ERAS in kidney transplantation, appetite appears to be increasing, particularly in the post-COVID-19 era. The current practice and opinions of transplant specialists highlighted in this survey may help to establish nationally agreed ERAS guidelines in this field.